Diamond Blackfan anaemia
Gene: GATA1EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 15 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
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 listCreated: 1 Sep 2022, 6:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia (MONDO:0015253)
Publications
- PMID: 36029112
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Diamond-Blackfan anemia (MONDO:0015253)
- OMIM
- 305371
- Clinvar variants
- Variants in GATA1
- Penetrance
- None
- Publications
-
- PMID: 36029112
- Panels with this gene
-
- Red cell disorders
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Hydrops fetalis
- Haem degradation and bilirubin metabolism defects
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Radial Ray Abnormalities
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Photosensitivity Syndromes
- IBMDx study
- Diamond Blackfan anaemia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)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