PRR12

Chr 19AD

proline rich 12

Also known as: KIAA1205, NOC

NCBI Gene: 57479 ENSG00000126464 UniProt: Q9ULL5 OMIM: 616633

This protein contains A-T hook DNA binding domains and may regulate cohesin complex loading onto chromatin in coordination with NIPBL and MAU2. Mutations cause neuroocular syndrome, an autosomal dominant condition affecting the nervous system and eyes. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.051), indicating that heterozygous mutations are likely sufficient to cause disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neuroocular syndromeMIM #619539

Clinical highlights

Gene-disease validity (ClinGen)

neuroocular syndrome · ADDefinitivesufficient 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)

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P/LP submissions

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P/LP missense

0.05

LOEUF· LoF intol.

LOF

Mechanism· G2P