HMX1

Chr 4AR

H6 family homeobox 1

Also known as: H6, NKX5-3

NCBI Gene: 3166 ENSG00000215612 UniProt: Q9NP08 OMIM: 142992

HMX1 encodes a homeobox transcription factor that binds to specific DNA sequences and functions in craniofacial development, particularly of the eye and ear structures. Biallelic mutations cause oculoauricular syndrome, an autosomal recessive disorder affecting ocular and external ear development. The gene shows moderate constraint against loss-of-function variants (pLI 0.73, LOEUF 0.70).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Oculoauricular syndromeMIM #612109

Clinical highlights

Gene-disease validity (ClinGen)

oculoauricular syndrome · ARDefinitivesufficient evidence for diagnostic panels

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

0.70

LOEUF

LOF

Mechanism· G2P