GDAP1

ganglioside induced differentiation associated protein 1
OMIM: 606598
PanelMode of inheritanceDetails
4 panels
R-numbers: R78
Signed-off version 1.36
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, recessive intermediate, A, 608340, Charcot-Marie-Tooth with Vocal Cord Paresis (recessive), Charcot Marie Tooth disease, type 4A, 214400, Charcot Marie Tooth disease, axonal, type 2K, 607831, Charcot-Marie-Tooth, Intermediate (Dominant)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease (CMT4A), Charcot-Marie-Tooth disease, type 4A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, Charcot-Marie-Tooth disease, recessive intermediate, A, Charcot-Marie-Tooth disease, axonal, type 2K
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease (CMT4A), Charcot-Marie-Tooth disease, axonal, type 2K, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, Charcot-Marie-Tooth disease, recessive intermediate, A, Charcot-Marie-Tooth disease, type 4A
R-numbers: R63
Signed-off version 1.17
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
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