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Possible mitochondrial disorder - nuclear genes v1.72 GDAP1 Arina Puzriakova Mode of inheritance for gene: GDAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.71 GDAP1 Arina Puzriakova Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 to Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706; Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340; Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Possible mitochondrial disorder - nuclear genes v0.5 GDAP1 Ivone Leong reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, 607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706, Charcot-Marie-Tooth disease, recessive intermediate, A, 608340, Charcot-Marie-Tooth disease, type 4A, 214400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.2 GDAP1 Ivone Leong gene: GDAP1 was added
gene: GDAP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706