ETV6

ETS variant 6
OMIM: 600618, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ETV6 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	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
Green ETV6 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	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
Green ETV6 in Inherited predisposition to acute myeloid leukaemia (AML) Level 2: Haematology Version 3.11 Latest signed off version: v3.10 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH Phenotypes Leukemia, acute myeloid, somatic, OMIM:601626 Thrombocytopenia 5, OMIM:616216 Acute myeloid leukemia, MONDO:0018874
Green ETV6 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 5.1 Latest signed off version: v5.0 (6 May 2026)	review	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
Green ETV6 in Bleeding and platelet disorders Level 2: Haematology Version 4.17 Latest signed off version: v4.16 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 616216 Thrombocytopenia 5
Green ETV6 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 5.8 Latest signed off version: v5.7 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert review Green North West GLH Wessex and West Midlands GLH Expert Review Green Yorkshire and North East GLH NHS GMS London South GLH Phenotypes 616216 Thrombocytopenia 5
Green ETV6 in Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) Level 2: Haematology Version 1.6 Latest signed off version: v1.5 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Thrombocytopenia 5, OMIM:616216 thrombocytopenia 5, MONDO:0014536