Rhabdomyolysis and Metabolic Myopathy
Gene: TAZEnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 17 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Barth syndrome MIM#302060
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Fatty Acid Oxidation Defects
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Phagocyte Defects
- Mendeliome
- Dilated Cardiomyopathy
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taz has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: taz has been classified as Green List (High Evidence).
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