CHD5

Chr 1

chromodomain helicase DNA binding protein 5

Also known as: CHD-5, PMNDS

NCBI Gene: 26038 ENSG00000116254 UniProt: O00258

The protein is a neuron-specific chromodomain helicase that functions in chromatin remodeling and gene transcription. Mutations cause Parenti-Mignot neurodevelopmental syndrome with autosomal dominant inheritance. CHD5 is highly constrained against loss-of-function variants (pLI ~1.0), indicating that even single functional copies are critical for normal neurodevelopment.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]

ResearchGenerating clinical summary…

Clinical highlights

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

0.16

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429