Cerebral Palsy
Gene: CHD4
CHD4 (chromodomain helicase DNA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 12 panels
1 review
Clare van Eyk (University of Adelaide)
2 individuals with mono-allelic missense variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 27 May 2024, 4:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sifrim-Hitz-Weiss syndrome, MIM#617159
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Sifrim-Hitz-Weiss syndrome, MIM#617159
- OMIM
- 603277
- Clinvar variants
- Variants in CHD4
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd4 has been classified as Red List (Low Evidence).
29 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd4 has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: CHD4 was added gene: CHD4 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD4 were set to PMID: 38693247 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, MIM#617159 Review for gene: CHD4 was set to AMBER