Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Prepair 1000+ v1.740 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Prepair 1000+ v1.740 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.740 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) to Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377
Prepair 1000+ v1.739 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Prepair 1000+ v1.633 SCO2 Andrew Coventry reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15210538, 18924171, 22231385, 10545952, 10749987; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.631 ESCO2 Lilian Downie Marked gene: ESCO2 as ready
Prepair 1000+ v1.631 ESCO2 Lilian Downie Gene: esco2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.631 ESCO2 Lilian Downie Phenotypes for gene: ESCO2 were changed from SC phocomelia syndrome, 269000 (3) to Juberg-Hayward syndrome (MIM#216100); Roberts-SC phocomelia syndrome (MIM#268300)
Prepair 1000+ v1.630 ESCO2 Lilian Downie Publications for gene: ESCO2 were set to
Prepair 1000+ v1.553 ESCO2 Crystle Lee reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome (MIM#216100), Roberts-SC phocomelia syndrome (MIM#268300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 SCO2 Seb Lunke Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) for gene: SCO2
Prepair 1000+ v1.3 ESCO2 Seb Lunke Added phenotypes SC phocomelia syndrome, 269000 (3) for gene: ESCO2
Prepair 1000+ v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Prepair 1000+ v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)