1. Panels
  2. Miscellaneous Metabolic Disorders
  3. HSD3B7
STRs in panel
Prev Next
Regions in panel
Prev Next

Miscellaneous Metabolic Disorders

Gene: HSD3B7

Green List (high evidence)
HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)
EnsemblGeneIds (GRCh38): ENSG00000099377
EnsemblGeneIds (GRCh37): ENSG00000099377
OMIM: 607764, Gene2Phenotype
HSD3B7 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Congenital bile acid synthesis defect is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of bile acid metabolism.
Sources: NHS GMS
Created: 5 Feb 2021, 2:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Feb 2021, 2:28 a.m.

Panel version: 0.190

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bile acid synthesis defect, congenital, 1 MIM#607765
  • Disorders of bile acid biosynthesis
OMIM
607764
Clinvar variants
Variants in HSD3B7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hsd3b7 has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hsd3b7 has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HSD3B7 was added gene: HSD3B7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B7 were set to 11067870; 27604308 Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis Review for gene: HSD3B7 was set to GREEN gene: HSD3B7 was marked as current diagnostic