GREB1L

Chr 18

GREB1 like retinoic acid receptor coactivator

Also known as: C18orf6, DFNA80, KIAA1772, RHDA3

NCBI Gene: 80000 ENSG00000141449 UniProt: Q9C091

GREB1L encodes a membrane-localized protein that plays a major role in early metanephros and genital development. Mutations cause autosomal dominant nonsyndromic deafness and renal hypodysplasia/aplasia, affecting the kidney, genitourinary system, and auditory system. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.075), indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, OMIM, UniProt

Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRenal hypodysplasia/aplasia 3

UniProtDeafness, autosomal dominant, 80

Clinical highlights

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

0.07

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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