Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cardiomyopathy_Paediatric v0.0 | TAZ |
Zornitza Stark 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 |