Rhabdomyolysis and Metabolic Myopathy
Gene: TAZ
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
Well reported gene causing Barth syndrome. Early onset myopathy is a feature of this condition. Female carriers usually asymptomaticCreated: 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
Exercise intolerance is a prominent feature of the condition.
Sources: Expert listCreated: 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
Gene: taz has been classified as Green List (High Evidence).
Gene: taz has been classified as Green List (High Evidence).
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