Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: GDAP1

Green List (high evidence)

GDAP1 (ganglioside induced differentiation associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104381
EnsemblGeneIds (GRCh37): ENSG00000104381
OMIM: 606598, Gene2Phenotype
GDAP1 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
OMIM
606598
Clinvar variants
Variants in GDAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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