Anophthalmia or microphthalmia
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 panels
2 reviews
David FitzPatrick (University of Edinburgh)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expertCreated: 10 May 2016, 11:48 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Martsolf syndrome 1, OMIM:212720
- Warburg micro syndrome 2, OMIM:614225
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Hereditary spastic paraplegia, adult onset
- Bilateral congenital or childhood onset cataracts
- Skeletal dysplasia
- Dilated Cardiomyopathy and conduction defects
- Corneal abnormalities
- Hereditary spastic paraplegia, childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary spastic paraplegia
- Fetal anomalies
- Structural eye disease
- Early onset or syndromic epilepsy
- DDG2P
- Malformations of cortical development
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RAB3GAP2 were changed from Warburg Micro Syndrome; Martsolf syndrome, 212720Warburg micro syndrome 2, 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()RAB3GAP2 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()RAB3GAP2 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services