Inherited bleeding disorders
Gene: ETV6EnsemblGeneIds (GRCh38): ENSG00000139083
EnsemblGeneIds (GRCh37): ENSG00000139083
OMIM: 600618, Gene2Phenotype
ETV6 is in 7 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia
- OMIM
- 600618
- Clinvar variants
- Variants in ETV6
- Penetrance
- Complete
- Panels with this gene
-
- Bleeding and platelet disorders
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Inherited bleeding disorders
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)ETV6 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)ETV6 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ETV6 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene