Possible mitochondrial disorder - nuclear genes
Gene: GDAP1EnsemblGeneIds (GRCh38): ENSG00000104381
EnsemblGeneIds (GRCh37): ENSG00000104381
OMIM: 606598, Gene2Phenotype
GDAP1 is in 10 panels
3 reviews
Ivone Leong (Genomics England Curator)
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)
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
-
- NHS GMS
- Expert Review Green
- 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
- OMIM
- 606598
- Clinvar variants
- Variants in GDAP1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Arthrogryposis
- Undiagnosed metabolic disorders
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: GDAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GDAP1 were changed from 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 to 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
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