Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072
Genetic Epilepsy v0.2714 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Genetic Epilepsy v0.2713 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2712 SLC25A1 Zornitza Stark reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1555 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Genetic Epilepsy v0.1555 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1555 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Genetic Epilepsy v0.1554 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Genetic Epilepsy v0.1553 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1552 SLC25A12 Zornitza Stark reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 35008954, 32700846, 31766059, 31514314; Phenotypes: Developmental and epileptic encephalopathy 39, MIM# 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 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: SLC25A12 was set to Unknown
Genetic Epilepsy v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 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: SLC25A1 was set to Unknown