Cholestasis
Gene: HSD3B7EnsemblGeneIds (GRCh38): ENSG00000099377
EnsemblGeneIds (GRCh37): ENSG00000099377
OMIM: 607764, Gene2Phenotype
HSD3B7 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established gene-disease association. Treatable with cholic acid.Created: 10 Dec 2022, 2:39 a.m. | Last Modified: 10 Dec 2022, 2:39 a.m.
Panel Version: 0.237
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid synthesis defect, congenital, 1 MIM#607765
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Bile acid synthesis defect, congenital, 1 MIM#607765
- Tags
- OMIM
- 607764
- Clinvar variants
- Variants in HSD3B7
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hsd3b7 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HSD3B7 were changed from to Bile acid synthesis defect, congenital, 1 MIM#607765
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: HSD3B7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: HSD3B7.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HSD3B7 was added gene: HSD3B7 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HSD3B7 was set to Unknown