Bilateral congenital or childhood onset cataracts
Gene: RAB18EnsemblGeneIds (GRCh38): ENSG00000099246
EnsemblGeneIds (GRCh37): ENSG00000099246
OMIM: 602207, Gene2Phenotype
RAB18 is in 9 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg Micro syndrome-3
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. It is a confirmed DD gene for Warburg micro syndrome 3.Created: 29 Apr 2016, 1:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg micro syndrome 3
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Warburg micro syndrome 3
- Warburg Micro syndrome-3
- OMIM
- 602207
- Clinvar variants
- Variants in RAB18
- Penetrance
- Complete
- Publications
-
- Handley et al (2013) Hum Mutat 34:686-96
- Panels with this gene
History Filter Activity
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 RAB18 were set to Warburg micro syndrome 3;Warburg Micro syndrome-3
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RAB18 were set to Handley et al (2013) Hum Mutat 34:686-96
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RAB18 were set to Warburg micro syndrome 3
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RAB18 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 ()RAB18 was added to Cataractspanel. Sources: UKGTN