Haematological malignancies for rare disease
Gene: ETV6
ETV6 (ETS variant 6)
EnsemblGeneIds (GRCh38): ENSG00000139083
EnsemblGeneIds (GRCh37): ENSG00000139083
OMIM: 600618, Gene2Phenotype
ETV6 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000139083
EnsemblGeneIds (GRCh37): ENSG00000139083
OMIM: 600618, Gene2Phenotype
ETV6 is in 7 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: familial predisp to leukaemia (typ AD)
- Thrombocytopenia 5
- Quantitative and qualitative platelet disorders with propensity to myeloid malignancy
- ALL, MDS, AML, CMML
- Thrombocytopenia
- No other known cancer risks
- OMIM
- 600618
- Clinvar variants
- Variants in ETV6
- Penetrance
- None
- Publications
- 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
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ETV6 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)ETV6 was created by Ellen McDonagh