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Severe Paediatric Disorders v0.12 SLC25A19 Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC25A15 Louise Daugherty reviewed gene: SLC25A15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC25A13 Louise Daugherty reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC25A12 Louise Daugherty reviewed gene: SLC25A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC25A1 Louise Daugherty reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SLC25A19 Louise Daugherty Publications for gene SLC25A19 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A15 Louise Daugherty Publications for gene SLC25A15 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A13 Louise Daugherty Publications for gene SLC25A13 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A12 Louise Daugherty Publications for gene SLC25A12 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A1 Louise Daugherty Publications for gene SLC25A1 were updated from to 30847515
Severe Paediatric Disorders v0.10 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.10 SLC25A15 Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.10 SLC25A13 Louise Daugherty Added phenotypes Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13
Severe Paediatric Disorders v0.10 SLC25A12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.10 SLC25A1 Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
Severe Paediatric Disorders v0.9 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.9 SLC25A15 Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.9 SLC25A13 Louise Daugherty Added phenotypes Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13
Severe Paediatric Disorders v0.9 SLC25A12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.9 SLC25A1 Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
Severe Paediatric Disorders v0.9 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.9 SLC25A15 Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.9 SLC25A13 Louise Daugherty Added phenotypes Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13
Severe Paediatric Disorders v0.9 SLC25A12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.9 SLC25A1 Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
Severe Paediatric Disorders v0.8 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.8 SLC25A15 Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.8 SLC25A13 Louise Daugherty Added phenotypes Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13
Severe Paediatric Disorders v0.8 SLC25A12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.8 SLC25A1 Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 for gene: SLC25A1
Severe Paediatric Disorders v0.8 SLC25A19 Louise Daugherty Mode of inheritance for gene SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.8 SLC25A15 Louise Daugherty Mode of inheritance for gene SLC25A15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.8 SLC25A13 Louise Daugherty Mode of inheritance for gene SLC25A13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13
Severe Paediatric Disorders v0.8 SLC25A12 Louise Daugherty Mode of inheritance for gene SLC25A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.8 SLC25A1 Louise Daugherty Mode of inheritance for gene SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
Severe Paediatric Disorders v0.7 SLC25A19 Louise Daugherty Source Next Generation Children Project was added to SLC25A19.
Severe Paediatric Disorders v0.7 SLC25A15 Louise Daugherty Source Next Generation Children Project was added to SLC25A15.
Severe Paediatric Disorders v0.7 SLC25A13 Louise Daugherty Source Next Generation Children Project was added to SLC25A13.
Severe Paediatric Disorders v0.7 SLC25A12 Louise Daugherty Source Next Generation Children Project was added to SLC25A12.
Severe Paediatric Disorders v0.7 SLC25A1 Louise Daugherty Source Next Generation Children Project was added to SLC25A1.
Severe Paediatric Disorders v0.5 SLC25A19 Louise Daugherty Source Expert Review Green was added to SLC25A19.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC25A15 Louise Daugherty Source Expert Review Green was added to SLC25A15.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC25A13 Louise Daugherty Source Expert Review Green was added to SLC25A13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC25A12 Louise Daugherty Source Expert Review Green was added to SLC25A12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC25A1 Louise Daugherty Source Expert Review Green was added to SLC25A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SLC25A19 Louise Daugherty gene: SLC25A19 was added
gene: SLC25A19 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A19 was set to
Severe Paediatric Disorders v0.4 SLC25A15 Louise Daugherty gene: SLC25A15 was added
gene: SLC25A15 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A15 was set to
Severe Paediatric Disorders v0.4 SLC25A13 Louise Daugherty gene: SLC25A13 was added
gene: SLC25A13 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A13 was set to
Severe Paediatric Disorders v0.4 SLC25A12 Louise Daugherty gene: SLC25A12 was added
gene: SLC25A12 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A12 was set to
Severe Paediatric Disorders v0.4 SLC25A1 Louise Daugherty gene: SLC25A1 was added
gene: SLC25A1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A1 was set to