Bilateral congenital or childhood onset cataracts
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg Micro syndrome-2; Martsolf syndrome
Publications
- Handley et al (2013) Hum Mutat 34:686-96
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel and is a confirmed DD gene for MARTSOLF SYNDROME (includes a cataract phenotype).Created: 29 Apr 2016, 1:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, Warburg micro syndrome 2
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Martsolf syndrome 1, OMIM:212720
- Warburg micro syndrome 2, OMIM:614225
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- Complete
- Publications
-
- Handley et al (2013) Hum Mutat 34:686-96
- Panels with this gene
-
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Structural eye disease
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Skeletal dysplasia
- Fetal anomalies
- Childhood onset hereditary spastic paraplegia
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome; Warburg micro syndrome 2; Warburg Micro syndrome-2 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RAB3GAP2 were set to Martsolf syndrome; Warburg micro syndrome 2; Warburg Micro syndrome-2
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RAB3GAP2 were set to Martsolf syndrome; Warburg micro syndrome 2;Warburg Micro syndrome-2; Martsolf syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RAB3GAP2 were set to Handley et al (2013) Hum Mutat 34:686-96
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RAB3GAP2 were set to Martsolf syndrome, Warburg micro syndrome 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RAB3GAP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()RAB3GAP2 was added to Cataractspanel. Sources: UKGTN