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  3. CHD8
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Overgrowth

Gene: CHD8

Green List (high 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)

Green List (high evidence)

Both tall stature and macrocephaly reported.
Created: 17 Jan 2021, 7:07 a.m. | Last Modified: 17 Jan 2021, 7:07 a.m.
Panel Version: 0.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated

Publications

Created: 17 Jan 2021, 7:07 a.m.
Last Modified: 17 Jan 2021, 7:07 a.m.
Panel version: 1.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism, susceptibility to, 18} 615032
  • Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
OMIM
610528
Clinvar variants
Variants in CHD8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated

17 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd8 has been classified as Green List (High Evidence).

17 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome

17 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHD8 were set to

17 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD8 was added gene: CHD8 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD8 was set to Unknown