Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: VPS13AEnsemblGeneIds (GRCh38): ENSG00000197969
EnsemblGeneIds (GRCh37): ENSG00000197969
OMIM: 605978, Gene2Phenotype
VPS13A is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association. A feature of the condition can be progressive distal muscle wasting and weakness that can be subclinical (only creatine kinase [CK] elevation). Myopathic changes can be detected on electromyography (as well as chronic denervation).
Sources: LiteratureCreated: 14 Apr 2023, 8:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
chorea-acanthocytosis MONDO:0008695
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- chorea-acanthocytosis MONDO:0008695
- OMIM
- 605978
- Clinvar variants
- Variants in VPS13A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: vps13a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: vps13a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: VPS13A was added gene: VPS13A was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13A were set to 33652783; 20301561 Phenotypes for gene: VPS13A were set to chorea-acanthocytosis MONDO:0008695 Review for gene: VPS13A was set to GREEN gene: VPS13A was marked as current diagnostic