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  3. CHD8
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Fetal anomalies

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 4 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

Chromatin remodeller. ID, seizures, macrocephaly (postnatal, prenatal has been reported), ADHD, autism etc. Neuroimaging features in 12/22 reported - VM (3), increased signal of PV white matter (2), cerebellar vermis atrophy (2), reduced white matter bulk (1), chiari 1 (3). Most of these document normal pregnancy. 1 case of unilateral renal agenesis reported.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with autism and macrocephaly, OMIM:615032

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

I don't know

Amber on Australian fetal anomalies panel. Congenital anomalies are not a prominent feature of this neurodevelopmental disorder. Macrocephaly reported of prenatal onset. PMID: 31980904 reports prenatal onset macrocephaly, and dysmorphic features, including broad forehead with prominent supraorbital ridges, flat nasal bridge, telecanthus and large ears.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with autism and macrocephaly, MIM#615032

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for AUTISM
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder with autism and macrocephaly, OMIM:615032
OMIM
610528
Clinvar variants
Variants in CHD8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CHD8 were changed from AUTISM; Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 to Intellectual developmental disorder with autism and macrocephaly, OMIM:615032

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to CHD8. Mode of inheritance for gene CHD8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8 Publications for gene: CHD8 were updated from to 31980904

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CHD8 was added gene: CHD8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD8 were set to AUTISM