SETD5

Chr 3

SET domain containing 5

Also known as: MRD23, SETD5A

NCBI Gene: 55209 ENSG00000168137 UniProt: Q9C0A6

The protein is predicted to function as a histone methyltransferase based on its SET domain. Mutations cause intellectual developmental disorder, autosomal dominant 23 through a loss-of-function mechanism. The condition follows an autosomal dominant inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 23

Clinical highlights

Gene-disease validity (ClinGen)

syndromic 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)

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P/LP submissions

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P/LP missense

0.23

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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