CHD8

chromodomain helicase DNA binding protein 8

2 disorders 1 untyped 1 causative 14q11.2 gene with protein product

HGNC:20153 Monarch NCBI Gene 57680 ENSG00000100888 UniProt Q9HCK8 OMIM 610528

Previous symbols: HELSNF1. Aliases: KIAA1564, DUPLIN.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
CHD8-Related Neurodevelopmental Disorder with Overgrowth	causative germline loss of function	mechanism: CHD8 Haploinsufficiency variant: CHD8 helicase-C (HELIC) domain truncating and missense variants; CHD8 missense variants of uncertain causality
Autism Spectrum Disorder	untyped Risk Factor

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
complex neurodevelopmental disorder MONDO:0100038	AD	Definitive 2018-07-16	no dismech entry

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via CHD8-Related Neurodevelopmental Disorder with Overgrowth

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.