Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:36 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: HSD3B7 Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
bile acids synthesis disorder; cholestasis
Gene: hsd3b7 has been classified as Green List (High Evidence).
Source Other was added to HSD3B7. Mode of inheritance for gene HSD3B7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bile acid sythesis defect, congenital, 1 607765; Neonatal and Adult Cholestasis for gene: HSD3B7 Publications for gene HSD3B7 were changed from to 12679481; 11067870
Source Expert Review Green was added to HSD3B7. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HSD3B7 was added gene: HSD3B7 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: HSD3B7 was set to