Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Marked gene: TAFAZZIN as ready
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Gene: tafazzin has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Phenotypes for gene: TAFAZZIN were changed from 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 to Barth syndrome, MIM# 302060
Cardiomyopathy_Paediatric v1.307 TAFAZZIN Zornitza Stark Publications for gene: TAFAZZIN were set to 27604308
Cardiomyopathy_Paediatric v1.306 TAFAZZIN Zornitza Stark reviewed gene: TAFAZZIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20812380; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)