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| Red cell disorders v0.66 | TPI1 | Zornitza Stark Marked gene: TPI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.66 | TPI1 | Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.66 | TPI1 | Zornitza Stark Phenotypes for gene: TPI1 were changed from 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder; Hemolytic anemia due to triosephosphate isomerase deficiency,615512 to Haemolytic anaemia due to triosephosphate isomerase deficiency MIM# 615512; chronic haemolytic anaemia; neuromuscular dysfunction; intracellular accumulation of dihydroxyacetone phosphate (DHAP) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.65 | TPI1 | Zornitza Stark Publications for gene: TPI1 were set to 11698297; 9338582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.64 | TPI1 | Danielle Ariti reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9338582, 32873690, 8503454; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency MIM# 615512, chronic hemolytic anaemia, neuromuscular dysfunction, intracellular accumulation of dihydroxyacetone phosphate (DHAP); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.1 | TPI1 |
Zornitza Stark Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder; Hemolytic anemia due to triosephosphate isomerase deficiency,615512 for gene: TPI1 Publications for gene TPI1 were updated from 9338582; 11698297 to 11698297; 9338582 |
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| Red cell disorders v0.0 | TPI1 |
Zornitza Stark gene: TPI1 was added gene: TPI1 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: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPI1 were set to 9338582; 11698297 Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency,615512; 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder |
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