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Cerebral Palsy

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 7 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

Additional individual with de novo missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically, ataxic CP, DD, ID, bilateral widened frontal subarachnoid space.
Created: 2 Sep 2024, 7:40 a.m. | Last Modified: 2 Sep 2024, 7:40 a.m.
Panel Version: 1.367
Single case with de novo LP variant in CHD3, diagnosed with spastic hemiplegic cerebral palsy with unclear cause (PMID: 38168508). Causal link not established.
Sources: Literature
Created: 26 Jun 2024, 4:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Snijders Blok-Campeau syndrome, MIM#618205

Publications

Created: 26 Jun 2024, 4:25 a.m.

Panel version: 1.367

Details

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

History Filter Activity

26 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd3 has been classified as Red List (Low Evidence).

26 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd3 has been classified as Red List (Low Evidence).

26 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: CHD3 was added gene: CHD3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to PMID: 38168508 Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205 Review for gene: CHD3 was set to RED