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| Red cell disorders v0.51 | EPB42 | Zornitza Stark Marked gene: EPB42 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.51 | EPB42 | Zornitza Stark Gene: epb42 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.51 | EPB42 | Zornitza Stark Phenotypes for gene: EPB42 were changed from Spherocytosis, type 5, 612690; 612690 Hereditary spherocytosis type 5; RBC membrane abnormality; Hereditary spherocytosis type 5; 612690 Spherocytosis, type 5; EPB42-related hereditary spherocytosis; Minkowski-Chauffard disease; Spherocytosis, Recessive; Elliptocytosis to Spherocytosis, type 5, MIM# 612690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.50 | EPB42 | Zornitza Stark Publications for gene: EPB42 were set to 12176912; 7772513; 1558976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.49 | EPB42 | Zornitza Stark edited their review of gene: EPB42: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.49 | EPB42 | Zornitza Stark reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: None; Publications: 1558976, 7803799, 7772513; Phenotypes: Spherocytosis, type 5, MIM# 612690; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.1 | EPB42 |
Zornitza Stark Added phenotypes Spherocytosis, type 5, 612690; 612690 Hereditary spherocytosis type 5; RBC membrane abnormality; Hereditary spherocytosis type 5; 612690 Spherocytosis, type 5; EPB42-related hereditary spherocytosis; Minkowski-Chauffard disease; Spherocytosis, Recessive; Elliptocytosis for gene: EPB42 Publications for gene EPB42 were updated from 1558976; 7772513; 12176912 to 12176912; 7772513; 1558976 |
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| Red cell disorders v0.0 | EPB42 |
Zornitza Stark gene: EPB42 was added gene: EPB42 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: EPB42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPB42 were set to 1558976; 7772513; 12176912 Phenotypes for gene: EPB42 were set to Elliptocytosis; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690; Spherocytosis, Recessive; EPB42-related hereditary spherocytosis; RBC membrane abnormality; 612690 Hereditary spherocytosis type 5; Minkowski-Chauffard disease; 612690 Spherocytosis, type 5 |
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