BRIDGE_SPEED_NEURO_20170705
Gene: HSD3B7

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 9:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582

Created: 2 Aug 2017, 4:05 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Bile acid synthesis defect, congenital, 1, 607765

OMIM

607764

Clinvar variants

Variants in HSD3B7

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

HSD3B7 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created