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| Diamond Blackfan anaemia v1.4 | GATA1 | Zornitza Stark Marked gene: GATA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.4 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.4 | GATA1 | Zornitza Stark Classified gene: GATA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.4 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.3 | GATA1 |
Daniel Flanagan gene: GATA1 was added gene: GATA1 was added to Diamond Blackfan anaemia. Sources: Expert list Mode of inheritance for gene: GATA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA1 were set to PMID: 36029112 Phenotypes for gene: GATA1 were set to Diamond-Blackfan anemia (MONDO:0015253) Review for gene: GATA1 was set to GREEN Added comment: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype. Sources: Expert list |
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| Diamond Blackfan anaemia v0.77 | Zornitza Stark removed gene:GATA1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.43 | GATA1 | Zornitza Stark Marked gene: GATA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.43 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.43 | GATA1 | Zornitza Stark Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367; Thrombocytopenia with beta-thalassemia, X-linked, MIM# 314050; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.42 | GATA1 | Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.41 | GATA1 | Zornitza Stark Classified gene: GATA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.41 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.40 | GATA1 | Zornitza Stark reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM# 314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.0 | GATA1 |
Zornitza Stark gene: GATA1 was added gene: GATA1 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GATA1 was set to Unknown |
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