LOVD - Variant listings for GDAP1

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+/? GDAP1_00001 c.27_28del
    + c.805G>A
Deletion Exon 1 Non-specific domain - p.(Gly10Glufs*15) Crimella et al. (2010) SEQ DNA Blood - c.23delAG This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Female CMT2K 1-5 years 24 years 21-30 years - - - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Axonal, "Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s" - - - Italy Crimella et al. (2010) The p.Gly269Arg mutation is not associated with a pathological phenotype but may have a role as phenotype modulator 1
+/? GDAP1_00001 c.27_28del Deletion Exon 1 Non-specific domain - p.(Gly10Glufs*15) Crimella et al. (2010) SEQ DNA Blood - c.23delAG This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Female CMT2K 21-30 years 53 years 21-30 years - - - - - - - - - - - - - - No technical assistance - - - - - Italy Crimella et al. (2010) - 1
+/+? GDAP1_00009 c.92G>A
    + c.92G>A
Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(Trp31*) Baxter et al. (2002) SEQ DNA Blood - - - - - CMT4A 1-5 years - - - - - - - - - - - - - - - - - - Sensori-motor neuropathy, Demyelinating, Median or ulnar nerves: MNCV 21-30 m/s Nerve biopsy: demyelinating - - Tunisia Baxter et al. (2002) Consanguinity 1
+/+? GDAP1_00009 c.92G>A
    + c.92G>A
Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(Trp31*) Baxter et al. (2002) SEQ DNA Blood - - - - - CMT4A 1-5 years - - - - - - - - - - - - - - - - - - Sensori-motor neuropathy, Demyelinating, Median or ulnar nerves: MNCV 21-30 m/s Nerve biopsy: demyelinating - - Tunisia Baxter et al. (2002) Consanguinity 1
+/+? GDAP1_00009 c.92G>A
    + c.92G>A
Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(Trp31*) Baxter et al. (2002) SEQ DNA Blood - - - - - CMT4A 1-5 years - - - - - - - - - - - - - - - - - - Sensori-motor neuropathy, Demyelinating, Median or ulnar nerves: MNCV 21-30 m/s - - - Tunisia Baxter et al. (2002) Consanguinity 1
+/+? GDAP1_00009 c.92G>A
    + c.92G>A
Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(Trp31*) Baxter et al. (2002) SEQ DNA Blood - - - - - CMT4A 1-5 years - - - - - - - - - - - - - - - - - - Sensori-motor neuropathy, Demyelinating, Median or ulnar nerves: MNCV 21-30 m/s - - - Tunisia Baxter et al. (2002) Consanguinity 1
+/? GDAP1_00003 c.101C>G Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(Ser34Cys) Crimella et al. (2010) SEQ DNA Blood - - - - Female CMT2K 6-10 years 20 years 11-20 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration unknown) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s - - - Italy Crimella et al. (2010) - 1
-?/? GDAP1_00047 c.102C>G
    + c.102C>G, c.694+24C>T, c.694+24C>T, c.836A>G, c.836A>G
Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(=) Sahin-Calapoglu et al. (2009) SEQ DNA Blood - c.102G>C This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Male AR-CMT2 1-5 years 19 years 11-20 years - - - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: not recordable - - - Turkey Sahin-Calapoglu et al. (2009) Consanguinity 1
-?/? GDAP1_00047 c.102C>G
    + c.102C>G, c.694+24C>T, c.694+24C>T, c.836A>G, c.836A>G
Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(=) Sahin-Calapoglu et al. (2009) SEQ DNA Blood - c.102G>C This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Male AR-CMT2 1-5 years 19 years 11-20 years - - - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: not recordable - - - Turkey Sahin-Calapoglu et al. (2009) Consanguinity 1
+/+? GDAP1_00049 c.172_173delinsTTA
    + c.311-1G>A
Insertion/Deletion Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro59Alafs*4) Sevilla et al. (2008) SEQ DNA Blood - - - - Female AR-CMT2 < 1 year 38 years 31-40 years - "Vocal cord paresis, Diaphragmatic paralysis" - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) CMTNS > 21 Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP < 0.5 mV Nerve biopsy: axonal - - Spain Sevilla et al. (2008) - 1
+/+? GDAP1_00010 c.174_176delinsTGTG
    + c.174_176delinsTGTG
Insertion/Deletion Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro59Valfs*4) Auer-Grumbach et al. (2008) SEQ DNA Blood - - Variation at protein level published as p.Leu58Leufs*4 - - CMT RIA 1-5 years 8 years < 11 years - - - - - - - - - - - - - - No technical assistance CMTNS 10-21 Sensori-motor neuropathy, Intermediate, Median or ulnar nerves: MNCV 31-40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV - - - Turkey Auer-Grumbach et al. (2008) Consanguinity 1
+/+? GDAP1_00010 c.174_176delinsTGTG
    + c.174_176delinsTGTG
Insertion/Deletion Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro59Valfs*4) Auer-Grumbach et al. (2008) SEQ DNA Blood - - Variation at protein level published as p.Leu58Leufs*4 - - CMT RIA 1-5 years 8 years < 11 years - - - - - - - - - - - - - - No technical assistance CMTNS 10-21 Sensori-motor neuropathy, Intermediate, Median or ulnar nerves: MNCV 31-40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV - - - Turkey Auer-Grumbach et al. (2008) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.233C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Male CMT4A 1-5 years 7 years < 11 years - - - - - - - - - - - - - - LL: wheelchair bound (disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 10-20 m/s, Median or ulnar nerves: CMAP < 0.5 mV - - - Marocco Bouhouche et al. (2007b) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.233C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Male CMT4A 1-5 years 7 years < 11 years - - - - - - - - - - - - - - LL: wheelchair bound (disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 10-20 m/s, Median or ulnar nerves: CMAP < 0.5 mV - - - Marocco Bouhouche et al. (2007b) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.233C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Female CMT4A 1-5 years 19 years 11-20 years - Hoarse voice - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: not recordable - - - Marocco Bouhouche et al. (2007b) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.233C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Female CMT4A 1-5 years 19 years 11-20 years - Hoarse voice - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: not recordable - - - Marocco Bouhouche et al. (2007b) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.233C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Male CMT4A 1-5 years 8 years < 11 years - - - - - - - - - - - - - - LL: walking with support-cane/crutch ( disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 21-30 m/s, Median or ulnar nerves: CMAP < 0.5 mV - - - Marocco Bouhouche et al. (2007b) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.233C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Male CMT4A 1-5 years 8 years < 11 years - - - - - - - - - - - - - - LL: walking with support-cane/crutch ( disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 21-30 m/s, Median or ulnar nerves: CMAP < 0.5 mV - - - Marocco Bouhouche et al. (2007b) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.233C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Male CMT4A < 1 year 15 years 11-20 years - Hoarse voice - - - - - - - - - - - - LL: walking with support-cane/crutch ( disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: not recordable - - - Marocco Bouhouche et al. (2007b) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.233C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Male CMT4A < 1 year 15 years 11-20 years - Hoarse voice - - - - - - - - - - - - LL: walking with support-cane/crutch ( disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: not recordable - - - Marocco Bouhouche et al. (2007b) Consanguinity 1
+/? GDAP1_00027 c.233C>T
    + c.581C>G
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Female CMT4A 1-5 years 6 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 21-30 m/s, Median or ulnar nerves: CMAP < 0.5 mV - - - Marocco Bouhouche et al. (2007b) - 1
+/? GDAP1_00027 c.233C>T
    + c.581C>G
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - - Female CMT4A < 1 year 4 years < 11 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV - - - Marocco Bouhouche et al. (2007b) - 1
+/+? GDAP1_00011 c.295C>T
    + c.295C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - - Male AR-CMT2 1-5 years 16 years 11-20 years - Vocal cord paresis - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: not recordable Nerve biopsy: axonal - - Italy Moroni et al. (2009) "Consanguinity; SURF1 heterozygous null mutation" 1
+/+? GDAP1_00011 c.295C>T
    + c.295C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - - Male AR-CMT2 1-5 years 16 years 11-20 years - Vocal cord paresis - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: not recordable Nerve biopsy: axonal - - Italy Moroni et al. (2009) "Consanguinity; SURF1 heterozygous null mutation" 1
+/+? GDAP1_00011 c.295C>T
    + c.295C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 11 years < 11 years - Vocal cord paresis - - - - - - - - - - - - LL: walking with support-cane/crutch ( disease duration < 10 years) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 0.5-1 mV - - - Italy Moroni et al. (2009) "Consanguinity; SURF1 heterozygous null mutation" 1
+/+? GDAP1_00011 c.295C>T
    + c.295C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 11 years < 11 years - Vocal cord paresis - - - - - - - - - - - - LL: walking with support-cane/crutch ( disease duration < 10 years) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 0.5-1 mV - - - Italy Moroni et al. (2009) "Consanguinity; SURF1 heterozygous null mutation" 1
+/+? GDAP1_00011 c.295C>T
    + c.295C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 9 years < 11 years - - - - - - - - - - - - - - No technical assistance - - - - - Italy Moroni et al. (2009) "Consanguinity; died at age 9; beta-thalassemia" 1
+/+? GDAP1_00011 c.295C>T
    + c.295C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 9 years < 11 years - - - - - - - - - - - - - - No technical assistance - - - - - Italy Moroni et al. (2009) "Consanguinity; died at age 9; beta-thalassemia" 1
+/+? GDAP1_00011 c.295C>T
    + c.295C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 9 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: axonal - - Italy Moroni et al. (2009) Consanguinity 1
+/+? GDAP1_00011 c.295C>T
    + c.295C>T
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 9 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: axonal - - Italy Moroni et al. (2009) Consanguinity 1
+/? GDAP1_00035 c.311-1G>A
    + c.389C>G
Substitution Intron 2 - - p.? Kabzinska et al. (2005) SEQ DNA Blood - - - - Male AR-CMT2 1-5 years 10 years < 11 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: axonal - - Poland Kabzinska et al. (2005) - 1
+/? GDAP1_00035 c.311-1G>A
    + c.172_173delinsTTA
Substitution Intron 2 - - p.? Sevilla et al. (2008) SEQ DNA Blood - - - - Female AR-CMT2 < 1 year 38 years 31-40 years - "Vocal cord paresis, Diaphragmatic paralysis" - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) CMTNS > 21 Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP < 0.5 mV Nerve biopsy: axonal - - Spain Sevilla et al. (2008) - 1
+/? GDAP1_00053 c.332C>A
    + c.656T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Pro111His) Chung et al. (2011) SEQ DNA - - - - - Male CMTRIA 1-5 years 8 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Sensori-motor neuropathy, Intermediate, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: mixed axonal-demyelinating features - - Korea Chung et al. (2011) - 1
+/+? GDAP1_00012 c.341_344del
    + c.487C>T
Deletion Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Glu114Alafs*32) Claramunt et al. (2005) SEQ DNA Blood - c.342-345delAAAG This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Male AR-CMT2 < 1 year 4 years < 11 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 31-40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Claramunt et al. (2005) - 1
+/+? GDAP1_00012 c.341_344del
    + c.715C>T
Deletion Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Glu114Alafs*32) Ammar et al. (2003) SEQ DNA Blood - - - - Male CMT RIA 1-5 years 11 years < 11 years - - - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 0.5-1 mV Nerve biopsy: mixed axonal-demyelinating features - - Germany/Italy Ammar et al. (2003) - 1
+/+? GDAP1_00012 c.341_344del
    + c.715C>T
Deletion Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Glu114Alafs*32) Ammar et al. (2003) SEQ DNA Blood - - - - Female CMT RIA 1-5 years - - - - - - - - - - - - - - - - - - - - - - Germany/Italy Ammar et al. (2003) - 1
+/? GDAP1_00028 c.347T>C
    + c.347T>C
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Thr) Kabzinska et al. (2006a) SEQ DNA Blood - - - - Male CMT4A 1-5 years 30 years 21-30 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV Nerve biopsy: mixed axonal-demyelinating features - - Poland Kabzinska et al. (2006a) - 1
+/? GDAP1_00028 c.347T>C
    + c.347T>C
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Thr) Kabzinska et al. (2006a) SEQ DNA Blood - - - - Male CMT4A 1-5 years 30 years 21-30 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV Nerve biopsy: mixed axonal-demyelinating features - - Poland Kabzinska et al. (2006a) - 1
+/? GDAP1_00028 c.347T>C
    + c.347T>C
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Thr) Kabzinska et al. (2006a) SEQ DNA Blood - - - - Male CMT4A 1-5 years 29 years 21-30 years - - - - - - - - - - - - - - - - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV Nerve biopsy: predominantly axonal with mild demyelinating features - - Poland Kabzinska et al. (2006a) - 1
+/? GDAP1_00028 c.347T>C
    + c.347T>C
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Thr) Kabzinska et al. (2006a) SEQ DNA Blood - - - - Male CMT4A 1-5 years 29 years 21-30 years - - - - - - - - - - - - - - - - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV Nerve biopsy: predominantly axonal with mild demyelinating features - - Poland Kabzinska et al. (2006a) - 1
+/? GDAP1_00028 c.347T>C
    + c.715C>T
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Thr) Kabzinska et al. (2010) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 8 years < 11 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV - - - Poland Kabzinska et al. (2010) - 1
+/? GDAP1_00028 c.347T>C
    + c.715C>T
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Thr) Kabzinska et al. (2010) SEQ DNA Blood - - - - Male AR-CMT2 6-10 years 12 years < 11 years - - - - - - - - - - - - - - No technical assistance - - - - - Poland Kabzinska et al. (2010) - 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G, c.507T>G, c.507T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - - Male AR-CMT2 1-5 years 23 years 21-30 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 31-40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: axonal - - Italy Di Maria et al. (2004) Consanguinity 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G, c.507T>G, c.507T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - - Male AR-CMT2 1-5 years 23 years 21-30 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 31-40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: axonal - - Italy Di Maria et al. (2004) Consanguinity 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G, c.507T>G, c.507T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - - Male AR-CMT2 6-10 years 16 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 0.5-1 mV Nerve biopsy: axonal - - Italy Di Maria et al. (2004) - 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G, c.507T>G, c.507T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - - Male AR-CMT2 6-10 years 16 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 0.5-1 mV Nerve biopsy: axonal - - Italy Di Maria et al. (2004) - 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G, c.507T>G, c.507T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - - Female AR-CMT2 6-10 years 9 years < 11 years - - - - - - - - - - - - - - - - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV - - - Italy Di Maria et al. (2004) - 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G, c.507T>G, c.507T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - - Female AR-CMT2 6-10 years 9 years < 11 years - - - - - - - - - - - - - - - - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV - - - Italy Di Maria et al. (2004) - 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G, c.507T>G, c.507T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 26 years 21-30 years - - - - - - - - - - - - - - LL: walking with support-cane/crutch (disease duration 21-30 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 21-30 m/s, Median or ulnar nerves: CMAP < 0.5 mV Nerve biopsy: axonal - - Italy Di Maria et al. (2004) Consanguinity 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G, c.507T>G, c.507T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 26 years 21-30 years - - - - - - - - - - - - - - LL: walking with support-cane/crutch (disease duration 21-30 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 21-30 m/s, Median or ulnar nerves: CMAP < 0.5 mV Nerve biopsy: axonal - - Italy Di Maria et al. (2004) Consanguinity 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Biancheri et al. (2006) SEQ DNA Blood - - - - Male CMT4A 1-5 years 18 years 11-20 years - Pyramidal feature - - - - - - - - - - - - - - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: demyelinating - - Italy Biancheri et al. (2006) - 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Biancheri et al. (2006) SEQ DNA Blood - - - - Male CMT4A 1-5 years 18 years 11-20 years - Pyramidal feature - - - - - - - - - - - - - - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: demyelinating - - Italy Biancheri et al. (2006) - 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Biancheri et al. (2006) SEQ DNA Blood - - - - Female CMT4A 6-10 years 12 years < 11 years - Pyramidal feature - - - - - - - - - - - - - - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Italy Biancheri et al. (2006) - 1
+/+? GDAP1_00029 c.347T>G
    + c.347T>G
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Biancheri et al. (2006) SEQ DNA Blood - - - - Female CMT4A 6-10 years 12 years < 11 years - Pyramidal feature - - - - - - - - - - - - - - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Italy Biancheri et al. (2006) - 1
+/+? GDAP1_00015 c.349dup
    + c.349dup, c.507T>G
Duplication Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Tyr117Leufs*13) Senderek et al. (2003) SEQ DNA Blood - c.349_350insT This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Male CMT RIA 1-5 years 7 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 31-40 m/s, Median or ulnar nerves: CMAP 0.5-1 mV Nerve biopsy: mixed axonal-demyelinating features - - Turkey Senderek et al. (2003) Consanguinity 1
+/+? GDAP1_00015 c.349dup
    + c.349dup, c.507T>G
Duplication Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Tyr117Leufs*13) Senderek et al. (2003) SEQ DNA Blood - c.349_350insT This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Male CMT RIA 1-5 years 7 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 31-40 m/s, Median or ulnar nerves: CMAP 0.5-1 mV Nerve biopsy: mixed axonal-demyelinating features - - Turkey Senderek et al. (2003) Consanguinity 1
+/+? GDAP1_00015 c.349dup
    + c.349dup, c.507T>G
Duplication Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Tyr117Leufs*13) Senderek et al. (2003) SEQ DNA Blood - c.349_350insT This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Female CMT RIA - - - - - - - - - - - - - - - - - - - - - - - Turkey Senderek et al. (2003) Consanguinity 1
+/+? GDAP1_00015 c.349dup
    + c.349dup, c.507T>G
Duplication Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Tyr117Leufs*13) Senderek et al. (2003) SEQ DNA Blood - c.349_350insT This mutation name has been modified according to the Nomenclature Working Group nomenclature. - Female CMT RIA - - - - - - - - - - - - - - - - - - - - - - - Turkey Senderek et al. (2003) Consanguinity 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Claramunt et al. (2005) SEQ DNA Blood - - - - Male CMT2K 11-20 years 34 years 11-20 years - - - - - - - - - - - - - - No technical assistance - - - - - Spain Claramunt et al. (2005) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K 41-50 years 67 years 21-30 years - - - - - - - - - - - - - - LL: wheelchair bound (disease duration unknown) CMTNS 10-21 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K 6-10 years 43 years 31-40 years - - - - - - - - - - - - - - No technical assistance CMTNS 10-21 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV Nerve biopsy: axonal - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K asymptomatic 40 years - - - - - - - - - - - - - - - No technical assistance CMTNS < 10 Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K 31-40 years 38 years < 11 years - - - - - - - - - - - - - - No technical assistance CMTNS < 10 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Male CMT2K > 50 years 80 years 21-30 years - - - - - - - - - - - - - - No technical assistance CMTNS 10-21 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K 11-20 years 52 years 31-40 years - - - - - - - - - - - - - - No technical assistance CMTNS 10-21 - - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Male CMT2K asymptomatic 20 years - - - - - - - - - - - - - - - No technical assistance CMTNS 0 Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Male CMT2K 11-20 years 40 years 21-30 years - - - - - - - - - - - - - - No technical assistance CMTNS < 10 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Male CMT2K 11-20 years 38 years 21-30 years - - - - - - - - - - - - - - No technical assistance CMTNS 10-21 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K 11-20 years 62 years 41-50 years - - - - - - - - - - - - - - No technical assistance CMTNS < 10 - - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K 11-20 years 33 years 11-20 years - - - - - - - - - - - - - - No technical assistance CMTNS < 10 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Male CMT2K 11-20 years 30 years 11-20 years - - - - - - - - - - - - - - No technical assistance CMTNS 10-21 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV Nerve biopsy: axonal - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K 11-20 years 24 years 11-20 years - - - - - - - - - - - - - - No technical assistance CMTNS < 10 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K asymptomatic 72 years - - - - - - - - - - - - - - - No technical assistance CMTNS 0 - - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Sivera et al. (2010) SEQ DNA Blood - - - - Female CMT2K 21-30 years 75 years 41-50 years - - - - - - - - - - - - - - LL: walking with support-cane/crutch (disease duration unknown) CMTNS > 21 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Spain Sivera et al. (2010) - 1
+/+ GDAP1_00004 c.358C>T
    + c.811G>A
Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Ammar et al. (2003) SEQ DNA Blood - - - - Female CMT4A 1-5 years 53 years 41-50 years - - - - - - - - - - - - - - LL: wheelchair bound (disease duration 10-20 years) - Sensori-motor neuropathy, Median or ulnar nerves: MNCV 10-20 m/s, Median or ulnar nerves: CMAP < 0.5 mV - - - Belgium Ammar et al. (2003) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Zimon et al. (2011) SEQ DNA Blood - - - - Female CMT2K 6-10 years 51 years 41-50 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s - - - Austria Zimon et al.(2011) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Zimon et al. (2011) SEQ DNA Blood - - - - Female CMT2K 41-50 years 46 years < 11 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Austria Zimon et al. (2011) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Zimon et al. (2011) SEQ DNA Blood - - - - Male CMT2K Asymptomatic 50 years - - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration unknown) - - - - - United-States Zimon et al. (2011) patient walks with right ankle foot as a result of a herniated disk 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Zimon et al. (2011) SEQ DNA Blood - - - - Female CMT2K 6-10 years 47 years 31-40 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration unknown) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - United-States Zimon et al. (2011) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Zimon et al. (2011) SEQ DNA Blood - - - - Female CMT2K 11-20 years 39 years 11-20 years - Hand/finger tremor - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Italy Zimon et al. (2011) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Vital et al. (2012) SEQ DNA Blood - - - - Female CMT2K 1-5 years 41 years 31-40 years - - - - - - - - - - - - - - LL: walking with support-cane/crutch (disease duration unknown) - Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP < 0.5 mV, Median or ulnar nerves: SNAP 1.1-6 ÁV, Sural nerve: not recordable Nerve biopsy: predominantly axonal with mild demyelinating features - - France Vital et al. (2012) MFN2:c.[479_480delTG] in heterozygous state 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Vital et al. (2012) SEQ DNA Blood - - - - Female CMT2K 1-5 years 3 years < 11 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy - - - France Vital et al, (2012) MFN2:c.[479_480delTG] in heterozygous state 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Vital et al. (2012) SEQ DNA Blood - - - - Female CMT2K Asymptomatic 63 years - - - - - - - - - - - - - - - No technical assistance - Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV, Sural nerve: SNAP > 10 ÁV - - - France Vital et al (2012) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Vital et al. (2012) SEQ DNA Blood - - - - Female CMT2K 41-50 years 65 years 21-30 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV, Median or ulnar nerves: SNAP > 12 ÁV, Sural nerve: SNAP > 10 ÁV - - - France Vital et al (2012) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Vital et al. (2012) SEQ DNA Blood - - - - Male CMT2K 41-50 years 67 years 21-30 years - - - - - - - - - - - - - - No technical assistance - Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV, Sural nerve: SNAP 5.1-10 ÁV - - - France Vital et al (2012) - 1
+/+ GDAP1_00004 c.358C>T Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Claramunt et al. (2005) SEQ DNA Blood - - - - Female CMT2K 6-10 years 49 years 31-40 years - Hearing loss - - - - - - - - Yes - - - LL: wheelchair bound (disease duration > 30 years), UL: difficulty with buttons/zip (disease duration >30 years) CMTNS 10-21 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV, Median or ulnar nerves: SNAP 6.1-12 ÁV, Common fibular nerve: CMAP 0.5-1 mV, Common fibular nerve: MNCV > 40 m/s, Sural nerve: SNAP < 1 ÁV Muscle biopsy: denervation - - - Delmont E (unpublished), France:Nice Multiple sclerosis since 2009 (diagnosis made on cerebral and medullar MRI and lumbar puncture) 1
+/? GDAP1_00031 c.359G>A
    + c.359G>A
Substitution Exon 3 Non-specific domain - p.(Arg120Gln) Boerkoel et al. (2003) SEQ DNA Blood - - - - Female DSS 1-5 years 34 years 31-40 years - "Facial paralysis, Vocal cord paresis" - - - - - - - - - - - - - - Sensori-motor neuropathy, Median or ulnar nerves: not recordable Nerve biopsy: mixed axonal-demyelinating features - - Japan Boerkoel et al. (2003) Consanguinity 1
+/? GDAP1_00031 c.359G>A
    + c.359G>A
Substitution Exon 3 Non-specific domain - p.(Arg120Gln) Boerkoel et al. (2003) SEQ DNA Blood - - - - Female DSS 1-5 years 34 years 31-40 years - "Facial paralysis, Vocal cord paresis" - - - - - - - - - - - - - - Sensori-motor neuropathy, Median or ulnar nerves: not recordable Nerve biopsy: mixed axonal-demyelinating features - - Japan Boerkoel et al. (2003) Consanguinity 1
+?/? GDAP1_00032 c.364C>A
    + c.891C>G
Substitution Exon 3 Non-specific domain - p.(Gln122Lys) Moroni et al. (2009) SEQ DNA Blood - - - - Female AR-CMT2 1-5 years 14 years 11-20 years - - - - - - - - - - - - - - No technical assistance - Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Italy Moroni et al. (2009) - 1
+/? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. - Female CMT2K Asymptomatic 72 years - - - - - - - - - - - - - - - No technical assistance - Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP > 6 mV - - - Finland Zimon et al. (2011) - 1
+/? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. - Male CMT2K Asymptomatic - - - - - - - - - - - - - - - - No technical assistance - - - - - Finland Zimon et al. (2011) - 1
+/? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. - Female CMT2K 31-40 years 57 years 21-30 years - - - - - - - - - - - - - - No technical assistance - Axonal - - - Finland Zimon et al. (2011) - 1
+/? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. - Female CMT2K Asymptomatic - - - - - - - - - - - - - - - - No technical assistance - Axonal - - - Finland Zimon et al. (2011) - 1
+/? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. - Female CMT2K 11-20 years 38 years 21-30 years - - - - - - - - - - - - - - No technical assistance - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV - - - Finland Zimon et al. (2011) The patient underwent arthrodesis of the left foot 1
+/? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. - Male CMT2K 1-5 years 42 years 31-40 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration unknown), LL: walking with support-cane/crutch (disease duration unknown) - Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP < 0.5 mV - - - Finland Zimon et al. (2011) The patient underwent multiple surgical interventions feet including triple arthrodesis 1
+/? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. - Female CMT2K 1-5 years 18 years - - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration unknown) - - - - - Finland Zimon et al. (2011) The patient underwent bilateral Achilles tendon elongation surgery at 7 years 1
+/? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. - Male CMTDI 6-10 years 24 years - - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration 10-20 years) - Sensori-motor neuropathy, Intermediate, Median or ulnar nerves: MNCV 31-40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV Nerve biopsy: mixed axonal-demyelinating features - - Tunisia Zimon et al. (2011) SporadicrnPatient underwent triple arthrodesis at 8 y 1
+?/+? GDAP1_00055 c.368A>G Substitution Exon 3 Non-specific domain - p.(His123Arg) - SEQ DNA blood - c.358A>G - - Male CMT2K < 1 year 3 years < 11 years Yes - - - - - - - - - - - - - LL: walking with support-cane/crutch (disease duration unknown) CMTNS > 21 Sensori-motor neuropathy, Axonal, Median or ulnar nerves: MNCV > 40 m/s, Median or ulnar nerves: CMAP 1.1-6 mV, Median or ulnar nerves: SNAP < 1 ÁV, Common fibular nerve: not recordable, Sural nerve: not recordable - - - poland Kostera-Pruszczyk et al. (2014) MFN2:p.[T236M] in heterozygous state MFN2:p.[T236M] was also found in the probandĺs asymptomatic mother and grandfather with adult onset neuropathy while GDAP1 mutation was absent in the parents and authors hypothesized a de novo event or a germline mosaicism in a parent 1
+/+? GDAP1_00017 c.373C>T
    + c.373C>T
Substitution Exon 3 Non-specific domain - p.(Arg125*) Fusco et al. (2011) SEQ DNA Blood - - - - Male CMT4A < 1 year 6 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Median or ulnar nerves: not recordable - - - Pakistan Fusco et al. (2011) Consanguinity 1
+/+? GDAP1_00017 c.373C>T
    + c.373C>T
Substitution Exon 3 Non-specific domain - p.(Arg125*) Fusco et al. (2011) SEQ DNA Blood - - - - Male CMT4A < 1 year 6 years < 11 years - - - - - - - - - - - - - - LL: walking with braces/orthesis (disease duration < 10 years) - Median or ulnar nerves: not recordable - - - Pakistan Fusco et al. (2011) Consanguinity 1
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Legend: [ GDAP1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. GDAP1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. DNA change (cDNA): Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Location: Variant location at DNA level. Exon: Exon numbering. Affected domain: Affected domain of the protein. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein. Tissue: Tissue type the variant was detected in. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. DNA published: What the variant was reported as. Variant remarks: Variant remarks Frequency: Frequency if variant is non pathogenic. Gender: Patient gender Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Age of onset: Age of the patient when the first symptoms occurred. Age at last examination: Age of the patient at the last examination. Duration of disease: Duration of the disease between first symptoms and the age of the last clinical examination. Affected relatives: Affected relatives genetically confirmed. Additional features: Additional features to the classical description of the disease. Visual acuity: Best corrected visual acuity. Evolution of vision loss: Evolution of vision loss since diagnosis (2 or more decimal lines). Optic disc: Optic disc appearance. Cupping: Cup to disc ratio on fundoscopy. Color vision: Clinical evaluation of color vision. Visual field: Type, value of MD and results of visual field. OCT: Mean retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) thickness by OCT. Visual handicap: Eventual handicap of the patient, at the last clinical examination, ONLY due to visual loss. D: driving; F: feeding; SL: social life; W: working. Hearing loss: Presence of hearing loss due to a genetic cause, i.e. excluding other possible causes (infection, medication, trauma...), and age of onset. Pure tone audiometry: Pure tone audiometry Auditory brainstem responses: Auditory brainstem responses Otoacoustic emission: Otoacoustic emission Functional disability: Functional disability. LL: lower limbs, UL: upper limbs. Clinical score: Clinical score. Electroneuromyography: Indicate the type of neuropathy, and the values of the electrophysiological parameters (MNCV: Motor Nerve Conduction Velocity in m/s; CMAP: Compound Muscle Action Potential in mV; SNAP: Sensory Nerve Action Potential in ÁV). Histology: Histological findings. Brain imaging: Brain imaging. MRI: magnetic resonance imaging; MR-spectroscopy: magnetic resonance spectroscopy. Habits: Habits of the patient. Geographic origin: Geographic origin of patient Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported