IRX3

Chr 16

iroquois homeobox 3

Also known as: IRX-1, IRXB1

NCBI Gene: 79191 ENSG00000177508 UniProt: P78415 OMIM: 612985

This transcription factor regulates SHH-dependent neural patterning during development and restricts motor neuron generation to the appropriate neural tube regions, while also functioning as a regulator of energy metabolism. Mutations in IRX3 cause autosomal dominant developmental delays with variable intellectual disability, short stature, and dysmorphic facial features. The gene is highly constrained against loss-of-function variants (pLI=0.89), indicating that such mutations are likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.41

LOEUF

LOF

Mechanism· predicted