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Inborn errors of metabolism

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 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Due to early-onset progressive hepatic disease, affected individuals commonly present in infancy with failure to thrive and coagulopathy, and typically demonstrate a favorable response to medical treatment (with oral bile acid therapy)
Created: 28 Feb 2017, 12:38 p.m.

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Confirmed DD-G2P gene for MIM:607765. >3 cases of HSD3B7 variants from varied populations.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 1, 607765

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis)
  • Bile acid synthesis defect, congenital, 1, 607765
OMIM
607764
Clinvar variants
Variants in HSD3B7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HSD3B7. Source London North GLH was added to HSD3B7.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HSD3B7 was added gene: HSD3B7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B7 were set to 27604308 Phenotypes for gene: HSD3B7 were set to 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 1, 607765