RFX7

Chr 15

regulatory factor X7

Also known as: MRD71, RFXDC2

NCBI Gene: 64864 ENSG00000181827 UniProt: Q2KHR2

RFX7 encodes a transcription factor that activates target genes including PDCD4, PIK3IP1, MXD4, PNRC1, and RFX5, and functions in natural killer cell maintenance and neural tube ciliogenesis. Mutations cause autosomal dominant intellectual developmental disorder with behavioral abnormalities. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.13), indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq, OMIM, UniProt

RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · 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

—

P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429