IBMDx study
Gene: GATA1
GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.
Sources: Expert listCreated: 15 Aug 2020, 1:44 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
- OMIM
- 305371
- Clinvar variants
- Variants in GATA1
- Penetrance
- None
- 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
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GATA1 was added gene: GATA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: GATA1 was set to Unknown Phenotypes for gene: GATA1 were set to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367