Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CHD3

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)

One of 35 individuals identified with Snijders Blok Campeau syndrome (neurodevelopmental disorder, macrocephaly and impaired speech and language) and with monoallelic variants in CHD3 gene (c.3482A>G; p.His1161Arg) presented with sagittal synostosis (PMID:30397230).

In addition, one of 28 patients with sequence variants (c.52_53inv; p.Ser18Glu) in the DECIPHER database (https://www.deciphergenomics.org/) was reported with craniosynostosis as one of the phenotypes./
Sources: Literature
Created: 20 Jul 2023, 10:41 a.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 20 Jul 2023, 10:41 a.m.

Panel version: 4.113

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

602120

Clinvar variants

Variants in CHD3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Jul 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 Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD3 were set to 30397230; 36980886 Phenotypes for gene: CHD3 were set to craniosynostosis, MONDO:0015469 Review for gene: CHD3 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: CHD3