Structural eye disease
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Handley et al. 2013 reported many families with Warburg Micro and Martsolf syndromeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Handley et al. 2013 reported many families with Warburg Micro and Martsolf syndromeCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Warburg Micro Syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Martsolf syndrome 1, OMIM:212720
- Warburg micro syndrome 2, OMIM:614225
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- None
- Publications
- 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, 212720; Warburg micro syndrome 2, 614225; Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RAB3GAP2. Added phenotypes Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Warburg Micro Syndrome for gene: RAB3GAP2 Publications for gene RAB3GAP2 were changed from to 23420520
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome