BRIDGE_SPEED_NEURO_20170705
Gene: TAZ

TAZ (tafazzin)
EnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 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_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:51 a.m.

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

Publications

25529582
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 7:38 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

Barth syndrome, 302060

OMIM

300394

Clinvar variants

Variants in TAZ

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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

27 Jul 2017, Gel status: 0

Created