This Panel is marked as Internal
Congenital anaemias
Gene: GATA1
GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels
0 reviews
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Thrombocytopenia,X‐linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta‐thalassemia,X‐linked,314050Anemia,X‐linked,with/withoutneutropeniaand/orplateletabnormalities,300835
- Congenital Dyserythropoietic Anemia
- Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835
- OMIM
- 305371
- Clinvar variants
- Variants in GATA1
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cutaneous photosensitivity with a likely genetic cause
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Limb disorders
- Non-acute porphyrias
- Haematological malignancies cancer susceptibility
- Rare anaemia
- Inherited bleeding disorders
- Fetal anomalies
- COVID-19 research
- Fetal hydrops
History Filter Activity
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Congenital anaemiaspanel. Source: UKGTN
12 Aug 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing
28 Apr 2015, Gel status: 2
Added New Source
GEL ()GATA1 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 1
Added New Source
GEL ()GATA1 was added to Congenital anaemiaspanel. Sources: UKGTN