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Possible mitochondrial disorder - nuclear genes

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 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

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, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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
OMIM
606598
Clinvar variants
Variants in GDAP1
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

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