Mitochondrial disease
Gene: GDAP1EnsemblGeneIds (GRCh38): ENSG00000104381
EnsemblGeneIds (GRCh37): ENSG00000104381
OMIM: 606598, Gene2Phenotype
GDAP1 is in 8 panels
2 reviews
Kristin Rigbye (Victorian Clinical Genetics Services)
GDAP1 is associated with both dominant and recessive forms of CMT, however the dominant condition generally presents with a milder phenotype and later onset (OMIM).
Missense variants described to result in a loss of function, similar to nonsense variants. Complete loss of function results in a more severe phenotype (OMIM).Created: 28 Apr 2020, 6:20 a.m. | Last Modified: 28 Apr 2020, 6:20 a.m.
Panel Version: 0.439
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
GDAP1 is an integral membrane protein of the outer mitochondrial membrane. Overexpression of Gdap1 induces fragmentation of mitochondria without inducing apoptosis, affecting overall mitochondrial activity, or interfering with mitochondrial fusion. Gdap1-specific knockdown by RNA interference resulted in a tubular mitochondrial morphology.
Sources: Expert listCreated: 11 Mar 2020, 8:01 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706
- Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340
- Charcot-Marie-Tooth disease, type 4A, MIM# 214400
- OMIM
- 606598
- Clinvar variants
- Variants in GDAP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gdap1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gdap1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GDAP1 was added gene: GDAP1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580 Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Review for gene: GDAP1 was set to GREEN