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Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
Prepair 1000+ v1.1566 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Changed rating: GREEN
Prepair 1000+ v1.1514 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: AMBER
Prepair 1000+ v1.1501 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301360, 21424115, 11343052, 11281457; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1496 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: GREEN
Prepair 1000+ v1.1493 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 11281457, 11343052, 12424587; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3); Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)
Prepair 1000+ v1.1461 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Prepair 1000+ v1.1460 SLC25A1 Cassandra Muller reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347, 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710 to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710); Microcephaly, Amish type (MIM#607196)
Prepair 1000+ v1.1018 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Prepair 1000+ v1.992 SLC25A19 Ee Ming Wong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301539, 31095747; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710), Microcephaly, Amish type (MIM#607196); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.770 SLC25A15 Zornitza Stark Marked gene: SLC25A15 as ready
Prepair 1000+ v1.770 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Prepair 1000+ v1.770 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 to Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome, MIM#238970
Prepair 1000+ v1.769 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
Prepair 1000+ v1.768 SLC25A15 Zornitza Stark Publications for gene: SLC25A15 were set to
Prepair 1000+ v1.633 SLC25A15 Andrew Coventry reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369256, 19242930; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 SLC25A15 Seb Lunke Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) for gene: SLC25A15
Prepair 1000+ v1.3 SLC25A13 Seb Lunke Added phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3) for gene: SLC25A13
Prepair 1000+ v1.3 SLC25A1 Seb Lunke Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) for gene: SLC25A1
Prepair 1000+ v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710
Prepair 1000+ v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Prepair 1000+ v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)
Prepair 1000+ v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)