Differences of Sex Development
Gene: CHD4EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 12 panels
1 review
Chirag Patel (Genetic Health Queensland)
Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features. Established gene-disease association.
Hypogonadism is common in males (cryptorchidism and/or microphallus), with hormonal profile consistent with hypogonadotropic hypogonadism.
Sources: LiteratureCreated: 5 Dec 2024, 4:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sifrim-Hitz-Weiss syndrome, MIM #617159
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Sifrim-Hitz-Weiss syndrome, MIM #617159
- OMIM
- 603277
- Clinvar variants
- Variants in CHD4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd4 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CHD4 were set to PMID: 31388190, 32881470
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: chd4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: CHD4 was added gene: CHD4 was added to Differences of Sex Development. 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: 31388190, 32881470 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, MIM #617159 Review for gene: CHD4 was set to GREEN