Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Red cell disorders v0.35 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Red cell disorders v0.35 ALDOA Zornitza Stark Gene: aldoa has been classified as Green List (High Evidence).
Red cell disorders v0.35 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from Enzyme Disorder; Glycogen storage disease; Aldolase A deficiency; 611881 Aldolase A deficiency; 611881 Glycogen storage disease XII; Glycogen storage disease XII, 611881; Glycogen storage disease due to aldolase A deficiency to Glycogen storage disease XII , MIM#611881
Red cell disorders v0.34 ALDOA Zornitza Stark Publications for gene: ALDOA were set to 8598869; 7331996
Red cell disorders v0.33 ALDOA Zornitza Stark reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7331996, 8598869, 25392908; Phenotypes: Glycogen storage disease XII , MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.1 ALDOA Zornitza Stark Added phenotypes Enzyme Disorder; 611881 Aldolase A deficiency; Aldolase A deficiency; Glycogen storage disease; 611881 Glycogen storage disease XII; Glycogen storage disease XII, 611881; Glycogen storage disease due to aldolase A deficiency for gene: ALDOA
Publications for gene ALDOA were updated from 7331996; 8598869 to 8598869; 7331996
Red cell disorders v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 7331996; 8598869
Phenotypes for gene: ALDOA were set to Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder; Glycogen storage disease; 611881 Glycogen storage disease XII; Aldolase A deficiency; 611881 Aldolase A deficiency; Glycogen storage disease XII, 611881