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  2. Dystonia - complex
  3. CHD8
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Dystonia - complex

Gene: CHD8

Amber List (moderate evidence)
CHD8 (chromodomain helicase DNA binding protein 8)
EnsemblGeneIds (GRCh38): ENSG00000100888
EnsemblGeneIds (GRCh37): ENSG00000100888
OMIM: 610528, Gene2Phenotype
CHD8 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported with marked childhood-onset dystonia on background of neurodevelopmental issues, phenotype expansion.
Sources: Literature
Created: 1 Nov 2021, 4:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, CHD8-related, MIM#615032; Dystonia

Publications

Created: 1 Nov 2021, 4:28 a.m.

Panel version: 0.195

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, CHD8-related, MIM#615032
  • Dystonia
OMIM
610528
Clinvar variants
Variants in CHD8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd8 has been classified as Amber List (Moderate Evidence).

1 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd8 has been classified as Amber List (Moderate Evidence).

1 Nov 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD8 was added gene: CHD8 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD8 were set to 34415117 Phenotypes for gene: CHD8 were set to Neurodevelopmental disorder, CHD8-related, MIM#615032; Dystonia Review for gene: CHD8 was set to AMBER