BRIDGE_SPEED_NEURO_20170705
Gene: HSD17B10

HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
EnsemblGeneIds (GRCh38): ENSG00000072506
EnsemblGeneIds (GRCh37): ENSG00000072506
OMIM: 300256, Gene2Phenotype
HSD17B10 is in 10 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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known . Main mutation mechanism : All missense/in frame; Loss of function
Created: 28 Jul 2017, 9:24 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Mode of pathogenicity

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

Panel version: 0.191

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

17-beta-hydroxysteroid dehydrogenase X deficiency, 300438
?Mental retardation, X-linked syndromic 10, 300220

OMIM

300256

Clinvar variants

Variants in HSD17B10

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

HSD17B10 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created