PRMT7

Chr 16AR

protein arginine methyltransferase 7

Also known as: SBIDDS

NCBI Gene: 54496 ENSG00000132600 UniProt: Q9NVM4 OMIM: 610087

The protein arginine methyltransferase PRMT7 transfers methyl groups to arginine residues on histones and other proteins, mediating gene regulation, small nuclear ribonucleoprotein assembly, and genomic imprinting processes. Mutations cause syndromic intellectual disability with short stature and additional developmental features, inherited in an autosomal recessive pattern. This gene shows extremely high constraint against loss-of-function variants, indicating that complete loss of function is likely incompatible with survival.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Short stature, brachydactyly, intellectual developmental disability, and seizuresMIM #617157

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.99

LOEUF

LOF

Mechanism· G2P