Macrocephaly_Megalencephaly
Gene: CHD4EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 12 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 31388190
Out of 32 probands, 5 had OFC of > 3 SD
PMID: 27616479
Out of 5 patients, 3 had OFC of >98th percentiles and 1x 90th
* all de novo variants
Sources: LiteratureCreated: 2 Sep 2020, 6:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sifrim-Hitz-Weiss syndrome (MIM#617159)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Sifrim-Hitz-Weiss syndrome (MIM#617159)
- OMIM
- 603277
- Clinvar variants
- Variants in CHD4
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: chd4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: chd4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: CHD4 was added gene: CHD4 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD4 were set to 31388190; 27616479 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome (MIM#617159) Penetrance for gene: CHD4 were set to unknown Review for gene: CHD4 was set to GREEN