PITX3

Chr 10ADAR

paired like homeodomain 3

Also known as: ASGD1, ASMD, ASOD, CTPP4, CTRCT11

NCBI Gene: 5309 ENSG00000107859 UniProt: O75364 OMIM: 602669

This gene encodes a transcription factor essential for lens development and the differentiation and maintenance of dopaminergic neurons in the brain. Mutations cause congenital cataracts and anterior segment dysgenesis affecting eye development, with inheritance patterns that can be either autosomal dominant or autosomal recessive depending on the specific mutation. The gene is highly constrained against loss-of-function variants (pLI 0.81, LOEUF 0.48), indicating that complete loss of protein function is likely not tolerated.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Anterior segment dysgenesis 1, multiple subtypesMIM #107250

Cataract 11, multiple typesMIM #610623

ADAR

Cataract 11, syndromic, autosomal recessiveMIM #610623

ADAR

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

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P/LP missense

0.48

LOEUF

LOF

Mechanism· G2P