NFIA

Chr 1AD

nuclear factor I A

ENSG00000162599 UniProt: Q12857 OMIM: 600727

This gene encodes a transcription factor that recognizes and binds specific palindromic DNA sequences in viral and cellular promoters to activate transcription and replication. Mutations cause brain malformations with or without urinary tract defects with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.20), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Brain malformations with or without urinary tract defectsMIM #613735

Clinical highlights

Gene-disease validity (ClinGen)

brain malformations with or without urinary tract defects · 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)

—

P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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