Mitochondrial disorders
Gene: TAZ

TAZ (tafazzin)
EnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for TAZ is TAFAZZIN
Created: 10 May 2022, 3:28 p.m. | Last Modified: 10 May 2022, 3:28 p.m.

Panel Version: 2.103

Created: 10 May 2022, 3:28 p.m.
Last Modified: 10 May 2022, 3:28 p.m.
Panel version: 2.103

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Hemizygous (G2P), X-linked recessive (OMIM).
Created: 2 Mar 2016, 2:07 p.m.

Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for Barth syndrome.
Created: 2 Mar 2016, 2:06 p.m.

Created: 2 Mar 2016, 2:06 p.m.

Panel version: 0.472

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

Details

Mode of Inheritance

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

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Disorders of mitochondrial lipid metabolism
Barth syndrome, 302060

Tags

new-gene-name

OMIM

300394

Clinvar variants

Variants in TAZ

Penetrance

Complete

Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: TAZ.

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TAZ. Panel: Mitochondrial disorders

2 Mar 2016, Gel status: 4