Rhabdomyolysis and Metabolic Myopathy

Gene: TAZ

Green List (high evidence)

TAZ (tafazzin)
EnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 17 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 25 Mar 2022, 9:32 p.m. | Last Modified: 25 Mar 2022, 9:32 p.m.
Panel Version: 0.11941

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

Phenotypes
Barth syndrome, MIM# 302060

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported gene causing Barth syndrome. Early onset myopathy is a feature of this condition. Female carriers usually asymptomatic
Created: 15 Jun 2020, 2:53 a.m. | Last Modified: 15 Jun 2020, 2:53 a.m.
Panel Version: 0.176

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

Phenotypes
Barth syndrome (MIM#302060)

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Exercise intolerance is a prominent feature of the condition.
Sources: Expert list
Created: 29 May 2020, 6:56 a.m.

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

Phenotypes
Barth syndrome MIM#302060

Publications

History Filter Activity

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taz has been classified as Green List (High Evidence).

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: taz has been classified as Green List (High Evidence).

29 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TAZ was added gene: TAZ was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 26845103 Phenotypes for gene: TAZ were set to Barth syndrome MIM#302060 Review for gene: TAZ was set to GREEN