Cardiomyopathy_Paediatric
Gene: TAZEnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 17 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- South West GLH
- NHS GMS
- Expert Review Green
- MetBioNet
- London South GLH
- Phenotypes
-
- Barth syndrome, 302060
- Dilated Cardiomyopathy, X-Linked
- Left Ventricular Noncompaction Cardiomyopathy
- Neutropenia, muscle weakness, growth retardation
- Non-compaction cardiomyopathy
- HCM, mixed
- Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial lipid metabolism
- Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
- Barth syndrome
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TAZ was added gene: TAZ was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH 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 27604308 Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Dilated Cardiomyopathy, X-Linked; Left Ventricular Noncompaction Cardiomyopathy; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial lipid metabolism; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Barth syndrome