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| Iron metabolism disorders - NOT common HFE mutations v1.28 | STEAP3 | Sarah Leigh Phenotypes for gene: STEAP3 were changed from 615234 ?Anemia, hypochromic microcytic, with iron overload 2 to ?Anemia, hypochromic microcytic, with iron overload 2 OMIM:615234; severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.41 | STEAP3 | Louise Daugherty Classified gene: STEAP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.41 | STEAP3 | Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.41 | STEAP3 | Louise Daugherty Gene: steap3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.39 | STEAP3 | Louise Daugherty commented on gene: STEAP3: 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 Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.37 | STEAP3 | PATRICIA BIGNELL reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.6 | STEAP3 | Louise Daugherty reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.5 | STEAP3 | Carl Fratter reviewed gene: STEAP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.4 | STEAP3 | Louise Daugherty Source NHS GMS was added to STEAP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.3 | STEAP3 |
Louise Daugherty Source Expert Review Green was added to STEAP3. Mode of inheritance for gene STEAP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 615234 ?Anemia, hypochromic microcytic, with iron overload 2 for gene: STEAP3 Publications for gene STEAP3 were changed from to 22031863 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Iron metabolism disorders - NOT common HFE mutations v0.2 | STEAP3 |
Louise Daugherty gene: STEAP3 was added gene: STEAP3 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: STEAP3 was set to |
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