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| Metal Metabolism Disorders v0.54 | STEAP3 | Zornitza Stark Publications for gene: STEAP3 were set to 22031863; 25515317; 26675350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.53 | STEAP3 | Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.52 | STEAP3 | Zornitza Stark edited their review of gene: STEAP3: Added comment: PMID 38360212 reports two unrelated families with compound heterozygous STEAP3 missense variants (p.I177M, p.T495M) causing childhood-onset microcytic anaemia; functional ferrireductase assays in HeLa cells demonstrate loss of activity. Part of large cohort study, low level of individual detail.; Changed publications: 22031863, 25515317, 26675350, 38360212; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.52 | STEAP3 | Chirag Patel Phenotypes for gene: STEAP3 were changed from Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 to Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.51 | STEAP3 | Chirag Patel Tag disputed tag was added to gene: STEAP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.51 | STEAP3 | Chirag Patel reviewed gene: STEAP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.27 | STEAP3 | Zornitza Stark Marked gene: STEAP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.27 | STEAP3 | Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.27 | STEAP3 | Zornitza Stark Phenotypes for gene: STEAP3 were changed from 615234 ?Anemia, hypochromic microcytic, with iron overload 2 to Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.26 | STEAP3 | Zornitza Stark Publications for gene: STEAP3 were set to 22031863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.25 | STEAP3 | Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.24 | STEAP3 | Zornitza Stark Classified gene: STEAP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.24 | STEAP3 | Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.23 | STEAP3 | Zornitza Stark reviewed gene: STEAP3: Rating: RED; Mode of pathogenicity: None; Publications: 22031863, 25515317, 26675350; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.0 | STEAP3 |
Zornitza Stark gene: STEAP3 was added gene: STEAP3 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service Mode of inheritance for gene: STEAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STEAP3 were set to 22031863 Phenotypes for gene: STEAP3 were set to 615234 ?Anemia, hypochromic microcytic, with iron overload 2 |
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