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| Red cell disorders v1.45 | STEAP3 | Zornitza Stark Publications for gene: STEAP3 were set to 22031863; 25515317; 26675350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.44 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.43 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.43 | STEAP3 |
Zornitza Stark changed review comment from: Single family reported only with (p.Cys100Ter) variant and a hypomorphic allele; Steap3/Tsap6 null mice model. The 3 siblings presented with transfusion-dependent hypochromic microcytic anaemia with iron overload. Other features present were hepatosplenomegaly, low serum ferritin, and blood smears revealed distinct aniso-poikilocytosis with hypochromasia, microcytosis and ovalocytes. Conflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes; to: Single family reported only with heterozygous (p.Cys100Ter) variant and a hypomorphic allele; Steap3/Tsap6 null mice model. The 3 siblings presented with transfusion-dependent hypochromic microcytic anaemia with iron overload. Other features present were hepatosplenomegaly, low serum ferritin, and blood smears revealed distinct aniso-poikilocytosis with hypochromasia, microcytosis and ovalocytes. Conflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes |
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| Red cell disorders v1.38 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.37 | Chirag Patel Added reviews for gene STEAP3 from panel Metal Metabolism Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.36 | STEAP3 | Chirag Patel Tag disputed tag was added to gene: STEAP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.141 | STEAP3 | Zornitza Stark Marked gene: STEAP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.141 | STEAP3 | Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.141 | STEAP3 | Zornitza Stark Phenotypes for gene: STEAP3 were changed from hypochromic anaemia to Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.140 | STEAP3 | Zornitza Stark Publications for gene: STEAP3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.139 | STEAP3 | Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.138 | STEAP3 | Zornitza Stark Classified gene: STEAP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.138 | STEAP3 | Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.128 | STEAP3 | Danielle Ariti 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.1 | STEAP3 | Zornitza Stark Added phenotypes hypochromic anaemia for gene: STEAP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.0 | STEAP3 |
Zornitza Stark gene: STEAP3 was added gene: STEAP3 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH Mode of inheritance for gene: STEAP3 was set to Unknown Phenotypes for gene: STEAP3 were set to hypochromic anaemia |
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