Anophthalmia_Microphthalmia_Coloboma
Gene: RAB18

RAB18 (RAB18, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000099246
EnsemblGeneIds (GRCh37): ENSG00000099246
OMIM: 602207, Gene2Phenotype
RAB18 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln
Created: 3 Sep 2020, 5:36 a.m. | Last Modified: 3 Sep 2020, 5:36 a.m.

Panel Version: 0.66

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 3, MIM# 614222

Publications

Created: 3 Sep 2020, 5:36 a.m.
Last Modified: 3 Sep 2020, 5:36 a.m.
Panel version: 0.66

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Warburg micro syndrome 3, MIM# 614222

Tags

founder

OMIM

602207

Clinvar variants

Variants in RAB18

Penetrance

None

Publications

Panels with this gene