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Red cell disorders v0.113 | NT5C3A | Zornitza Stark Marked gene: NT5C3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.113 | NT5C3A | Zornitza Stark Gene: nt5c3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.113 | NT5C3A | Zornitza Stark Phenotypes for gene: NT5C3A were changed from Anemia, hemolytic, due to UMPH1 deficiency, 266120; 266120 Anemia, hemolytic, due to UMPH1 deficiency to Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.112 | NT5C3A | Zornitza Stark Publications for gene: NT5C3A were set to 11369620; 12714505 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.111 | NT5C3A | Zornitza Stark reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11369620, 12714505, 30951028, 25153905; Phenotypes: Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.1 | NT5C3A |
Zornitza Stark Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120; 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A Publications for gene NT5C3A were updated from 12714505; 11369620 to 11369620; 12714505 |
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Red cell disorders v0.0 | NT5C3A |
Zornitza Stark gene: NT5C3A was added gene: NT5C3A 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: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 12714505; 11369620 Phenotypes for gene: NT5C3A were set to 266120 Anemia, hemolytic, due to UMPH1 deficiency; Anemia, hemolytic, due to UMPH1 deficiency, 266120 |