Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Genetic Epilepsy v0.383 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, MIM#252010 to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Genetic Epilepsy v0.381 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.379 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23266820, 22036843, 20819849; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS2 was set to Unknown