Neonatal cholestasis

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 5 unrelated cases.
Created: 25 Jul 2018, 9:39 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bile acids synthesis disorder; cholestasis

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Bile acid sythesis defect, congenital, 1 607765
OMIM
607764
Clinvar variants
Variants in HSD3B7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HSD3B7 were set to 11067870; 12679481

25 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HSD3B7 were set to Neonatal and Adult Cholestasis; Bile acid sythesis defect, congenital, 1 607765

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to HSD3B7. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to HSD3B7. Panel: Cholestasis Model of inheritance for gene HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene HSD3B7 were set to Neonatal and Adult Cholestasis, Bile acid sythesis defect, congenital, 1

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HSD3B7 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HSD3B7 was created by Ellen McDonagh