Inherited bleeding disorders
Gene: GATA1EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked thrombocytopenia with dyserythropoiesis
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked thrombocytopenia with dyserythropoiesis
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- X-linked thrombocytopenia with dyserythropoiesis
- 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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)GATA1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)GATA1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)GATA1 was created by ellenmcdonagh