Likely inborn error of metabolism - targeted testing not possible
Gene: TAZAdded new-gene-name tag, new approved HGNC gene symbol for TAZ is TAFAZZINCreated: 10 May 2022, 3:28 p.m. | Last Modified: 10 May 2022, 3:28 p.m.
Panel Version: 2.252
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.
Tag new-gene-name tag was added to gene: TAZ.
Source NHS GMS was added to TAZ. Source London North GLH was added to TAZ.
Ellen McDonagh: Comment on mode of pathogenici
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
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