Previous cardiomyopathies - including childhood onset
Gene: TAZ
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 18 Apr 2019, 11:53 a.m.
Phenotypes
Barth syndrome; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; HCM, mixed
Publications
Barth syndrome OMIM#302060Created: 25 Mar 2019, 4:30 p.m.
Barth syndrome associated with paediatric DCM.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: TAZ was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Source MetBioNet was added to TAZ. Added phenotypes Neutropenia, muscle weakness, growth retardation; Barth syndrome; HCM, mixed; Non-compaction cardiomyopathy for gene: TAZ
Source London South GLH was added to TAZ.
Source South West GLH was added to TAZ. Mode of inheritance for gene TAZ was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Eleanor Williams: Comment on publications: Addin
Added phenotypes Left Ventricular Noncompaction Cardiomyopathy for gene: TAZ
Added phenotypes Dilated Cardiomyopathy, X-Linked for gene: TAZ
Added phenotypes Barth syndrome, 302060; Disorders of mitochondrial lipid metabolism for gene: TAZ
gene: TAZ was added gene: TAZ was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TAZ were set to 27604308 Phenotypes for gene: TAZ were set to 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