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Iron metabolism disorders - NOT common HFE mutations v1.30 | SEC23B | Sarah Leigh Phenotypes for gene: SEC23B were changed from 224100 Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II OMIM:224100; congenital dyserythropoietic anemia type 2 MONDO:0009134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.45 | SEC23B | Louise Daugherty Classified gene: SEC23B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.45 | SEC23B | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red. It is Green on the rare anaemias panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.45 | SEC23B | Louise Daugherty Gene: sec23b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.39 | SEC23B | Louise Daugherty commented on gene: SEC23B: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.38 | SEC23B |
Louise Daugherty Source Wessex and West Midlands GLH was added to SEC23B. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Iron metabolism disorders - NOT common HFE mutations v0.37 | SEC23B | PATRICIA BIGNELL reviewed gene: SEC23B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.25 | SEC23B | Carl Fratter reviewed gene: SEC23B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.20 | SEC23B | Louise Daugherty reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.19 | SEC23B | Louise Daugherty Mode of inheritance for gene: SEC23B was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.18 | SEC23B | Louise Daugherty Classified gene: SEC23B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.18 | SEC23B | Louise Daugherty Gene: sec23b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.15 | SEC23B | Mandy nesbitt reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224100 Dyserythropoietic anemia, congenital, type II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.14 | SEC23B | Louise Daugherty Added phenotypes 224100 Dyserythropoietic anemia, congenital, type II for gene: SEC23B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.13 | SEC23B | Louise Daugherty Source NHS GMS was added to SEC23B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.12 | SEC23B |
Louise Daugherty gene: SEC23B was added gene: SEC23B was added to Iron metabolism disorders. Sources: Yorkshire and North East GLH Mode of inheritance for gene: SEC23B was set to |