Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Cardiomyopathy_Paediatric v0.29 SCO1 Zornitza Stark Classified gene: SCO1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.29 SCO1 Zornitza Stark Gene: sco1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.28 SCO1 Zornitza Stark Marked gene: SCO1 as ready
Cardiomyopathy_Paediatric v0.28 SCO1 Zornitza Stark Gene: sco1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.28 SCO1 Zornitza Stark Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048
Cardiomyopathy_Paediatric v0.27 SCO1 Zornitza Stark Publications for gene: SCO1 were set to
Cardiomyopathy_Paediatric v0.26 SCO1 Zornitza Stark reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11013136, 19295170, 31352446, 23878101; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110