Differences of Sex Development

Gene: CHD4

Green List (high evidence)

CHD4 (chromodomain helicase DNA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 12 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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: Literature
Created: 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

5 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd4 has been classified as Green List (High Evidence).

5 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHD4 were set to PMID: 31388190, 32881470

5 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: chd4 has been classified as Green List (High Evidence).

5 Dec 2024, Gel status: 1

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