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  3. CHD3
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Clefting

Gene: CHD3

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Of 28 patients with heterozygous sequence variants in CHD3 gene from DECIPHER database, one patient had cleft palate and another had submucous cleft hard palate.
Sources: Literature
Created: 23 Jun 2023, 6:30 p.m. | Last Modified: 23 Jun 2023, 6:31 p.m.
Panel Version: 4.62

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Snijders Blok-Campeau syndrome, OMIM:618205

Publications

Created: 23 Jun 2023, 6:30 p.m.
Last Modified: 23 Jun 2023, 6:31 p.m.
Panel version: 4.62

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Snijders Blok-Campeau syndrome, OMIM:618205
OMIM
602120
Clinvar variants
Variants in CHD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jun 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CHD3 was added gene: CHD3 was added to Clefting. Sources: Literature Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to 37010288 Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, OMIM:618205 Review for gene: CHD3 was set to RED