Inborn errors of metabolism
Gene: GDAP1Comment on mode of inheritance: Provided by reviewer. Confirmed on OMIM - Charcot-Marie-Tooth disease, axonal, type 2K is both AD and AR.Created: 15 Feb 2016, 11:20 a.m.
Comment on list classification: Is rated green by four other reviewers on the Charcot-Marie Tooth panel.Created: 15 Feb 2016, 11:19 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K for gene: GDAP1 Publications for gene GDAP1 were changed from 11743579 to PMID: 11743579
gene: GDAP1 was added gene: GDAP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GDAP1 were set to 11743579 Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K