Possible mitochondrial disorder - nuclear genesGene: TAZ
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Barth syndrome, 302060
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.
gene: TAZ was added gene: TAZ was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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