MNX1

Chr 7AD

motor neuron and pancreas homeobox 1

Also known as: HB9, HLXB9, HOXHB9, SCRA1

NCBI Gene: 3110 ENSG00000130675 UniProt: P50219 OMIM: 142994

This gene encodes a homeobox transcription factor that establishes motor neuron identity and is involved in pancreas development. Mutations cause Currarino syndrome, an autosomal dominant congenital malformation syndrome. The gene is highly constrained against loss-of-function variants (LOEUF 0.5), indicating that such variants are likely pathogenic.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Currarino syndromeMIM #176450

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)

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P/LP submissions

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P/LP missense

0.50

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MNX1