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Autism

Gene: CHD1

Red List (low evidence)

CHD1 (chromodomain helicase DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000153922
EnsemblGeneIds (GRCh37): ENSG00000153922
OMIM: 602118, Gene2Phenotype
CHD1 is in 3 panels

2 reviews

Aleš Maver (Clinical Institute of Medical Genetics)

Red List (low evidence)

A study reports the cases with de novo missense variants in CHD1 gene in patients with autism, speech apraxia, developmental delay and facial dysmorphic features.
Created: 16 Jan 2020, 4:36 p.m. | Last Modified: 16 Jan 2020, 4:36 p.m.
Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autism; speech apraxia; developmental delay; facial dysmorphic features

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/CHD1 Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder.
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
OMIM
602118
Clinvar variants
Variants in CHD1
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CHD1.

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CHD1 was added gene: CHD1 was added to Autism. Sources: SFARI Mode of inheritance for gene: CHD1 was set to