This Panel is marked as Deleted
Microcephaly Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- None
- Panels with this gene
-
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Structural eye disease
- Corneal abnormalities
- Skeletal dysplasia
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Anophthalmia or microphthalmia
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)RAB3GAP2 was added to Microcephaly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)RAB3GAP2 was created by Sarah Leigh