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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 |
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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 |