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Rare anaemia v0.53 | HBE1 | Louise Daugherty Classified gene: HBE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.53 | HBE1 | 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 Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.53 | HBE1 | Louise Daugherty Gene: hbe1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.12 | HBE1 |
Louise Daugherty Source Expert Review Green was added to HBE1. Mode of inheritance for gene HBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Rare anaemia v0.11 | HBE1 | Louise Daugherty reviewed gene: HBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.10 | HBE1 | Frances Smith reviewed gene: HBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17712794; Phenotypes: Epsilon-gamma-delta-beta thalassaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.9 | HBE1 |
Louise Daugherty Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1 Publications for gene HBE1 were changed from to 17712794 |
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Rare anaemia v0.8 | HBE1 | Louise Daugherty Source NHS GMS was added to HBE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.7 | HBE1 |
Louise Daugherty gene: HBE1 was added gene: HBE1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: HBE1 was set to |