Genomics England
GMS Panels
Panels
Genes and Entities

GDAP1

ganglioside induced differentiation associated protein 1
OMIM: 606598
PanelMode of inheritanceDetails
4 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 3.66
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
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
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
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
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
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
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.69
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
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