This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: RAB3GAP2
RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 panels
1 review
Richard Scott (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
212720; 614225
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- 212720
- 614225
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Anophthalmia or microphthalmia
- Malformations of cortical development
- Adult onset neurodegenerative disorder
- Dilated Cardiomyopathy and conduction defects
- Corneal abnormalities
- Early onset or syndromic epilepsy
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Hereditary spastic paraplegia
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- Childhood onset hereditary spastic paraplegia
- Skeletal dysplasia
History Filter Activity
8 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
8 Nov 2016, Gel status: 0
Created
Richard Scott (Genomics England Curator)RAB3GAP2 was created by richardhywel
8 Nov 2016, Gel status: 0
Added New Source
Richard Scott (Genomics England Curator)RAB3GAP2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert Review