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
-
- Adult onset hereditary spastic paraplegia
- Skeletal dysplasia
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Corneal abnormalities
- Fetal anomalies
- Childhood onset hereditary spastic paraplegia
- Malformations of cortical development
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Structural eye disease
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