DDG2P
Gene: CHD3

CHD3 (chromodomain helicase DNA binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000170004
EnsemblGeneIds (GRCh37): ENSG00000170004
OMIM: 602120, Gene2Phenotype
CHD3 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CHD3-related macrocephaly and impaired speech and language are strong, monoallelic_autosomal and undetermined (PMIDs: 30397230, 32483341, 33358638, 33571694, 34535214, 35346573, 36565043). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02440.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease Macrocephaly and impaired speech and language is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30397230).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0032600; Macrocephaly and impaired speech and language; CHD3-related macrocephaly and impaired speech and language; OMIM:618205.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Comment on publications: Added PMID:30397230 based on June 2019 DD-G2P update for CHD3. Removed PMID:29463886 as it is no longer listed as a reference in DD-G2P for CHD3.
Created: 1 Jul 2019, 8:04 a.m. | Last Modified: 1 Jul 2019, 8:04 a.m.

Panel Version: 1.70

Comment on phenotypes: Replaced phenotype 'Apraxia of speech' with 'Macrocephaly and impaired speech and language' to reflect June 2019 DD-G2P update for CHD3. Disease confidence rating remains as: probable. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: all missense/in frame.
Created: 1 Jul 2019, 8:01 a.m. | Last Modified: 1 Jul 2019, 8:01 a.m.

Panel Version: 1.69

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

Macrocephaly and impaired speech and language

OMIM

602120

Clinvar variants

Variants in CHD3

Penetrance

None

Publications

30397230

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CHD3 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CHD3. Mode of pathogenicity for gene CHD3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jul 2019, Gel status: 2