Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: TAZ

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: MOI corrected to an X-link MOI.
Created: 3 Dec 2019, 9:49 a.m. | Last Modified: 3 Dec 2019, 9:49 a.m.
Panel Version: 0.44
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.
Created: 18 Apr 2019, 11:53 a.m.

Phenotypes
Barth syndrome; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; HCM, mixed

Publications

  • National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp

Rebecca Whittington (South West GLH)

Green List (high evidence)

Barth syndrome OMIM#302060
Created: 25 Mar 2019, 4:30 p.m.
Barth syndrome associated with paediatric DCM.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • London South GLH
  • South West GLH
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial lipid metabolism
  • Dilated Cardiomyopathy, X-Linked
  • Neutropenia, muscle weakness, growth retardation
  • Non-compaction cardiomyopathy
  • Barth syndrome, 302060
  • Left Ventricular Noncompaction Cardiomyopathy
  • HCM, mixed
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Barth syndrome
  • Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
OMIM
300394
Clinvar variants
Variants in TAZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TAZ was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TAZ.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: TAZ was added gene: TAZ was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH Mode of inheritance for gene: TAZ was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TAZ were set to 27604308 Phenotypes for gene: TAZ were set to Disorders of mitochondrial lipid metabolism; Dilated Cardiomyopathy, X-Linked; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; Barth syndrome, 302060; Left Ventricular Noncompaction Cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)