Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Cardiomyopathy_Paediatric v0.35 COX14 Zornitza Stark Marked gene: COX14 as ready
Cardiomyopathy_Paediatric v0.35 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.35 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from ?Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Cardiomyopathy_Paediatric v0.34 COX14 Zornitza Stark Publications for gene: COX14 were set to
Cardiomyopathy_Paediatric v0.33 COX14 Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.33 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.32 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 COX14 Zornitza Stark gene: COX14 was added
gene: COX14 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110