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  3. TAZ
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Likely inborn error of metabolism

Gene: TAZ

Green List (high evidence)
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: 2.252
Created: 10 May 2022, 3:28 p.m.
Last Modified: 10 May 2022, 3:28 p.m.
Panel version: 2.252

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: Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Barth syndrome, 302060
  • Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
  • Disorders of mitochondrial lipid metabolism
Tags
new-gene-name
OMIM
300394
Clinvar variants
Variants in TAZ
Penetrance
None
Publications
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.

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TAZ. Source London North GLH was added to TAZ.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome, 302060; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Disorders of mitochondrial lipid metabolism for gene: TAZ Publications for gene TAZ were changed from to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TAZ was added gene: TAZ was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Disorders of mitochondrial lipid metabolism