RAB18

Chr 10

RAB18, member RAS oncogene family

Also known as: RAB18LI1, WARBM3

NCBI Gene: 22931 ENSG00000099246 UniProt: Q9NP72

RAB18 encodes a small GTPase that regulates intracellular membrane trafficking, maintains endoplasmic reticulum structure, and is required for endoplasmic reticulum-lipid droplet contacts. Mutations cause Warburg micro syndrome type 3, an autosomal recessive disorder affecting eye and brain development. The gene is highly constrained against loss-of-function variants (pLI 0.91, LOEUF 0.39), consistent with its essential role in neurological development.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtWarburg micro syndrome 3

Clinical highlights

Gene-disease validity (ClinGen)

Warburg micro syndrome · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.39

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — RAB18