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Rare anaemia v0.54 | PGK1 | Louise Daugherty Classified gene: PGK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.54 | PGK1 | Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.54 | PGK1 | Louise Daugherty Gene: pgk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.12 | PGK1 |
Louise Daugherty Source Expert Review Green was added to PGK1. Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Rare anaemia v0.11 | PGK1 | Louise Daugherty reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.10 | PGK1 | Frances Smith reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16740138, 6412025; Phenotypes: 300653 Phosphoglycerate kinase 1 deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.9 | PGK1 |
Louise Daugherty Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1 Publications for gene PGK1 were changed from to 6412025; 16740138 |
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Rare anaemia v0.8 | PGK1 | Louise Daugherty Source NHS GMS was added to PGK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.7 | PGK1 |
Louise Daugherty gene: PGK1 was added gene: PGK1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: PGK1 was set to |