Miscellaneous Metabolic Disorders
Gene: HSD3B7
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 GMSCreated: 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
Gene: hsd3b7 has been classified as Green List (High Evidence).
Gene: hsd3b7 has been classified as Green List (High Evidence).
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