ETV6

ETS variant 6
OMIM: 600618, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ETV6 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.12

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 1.172

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)


Version 1.24
Latest signed off version: v1.2 (3 Mar 2020)

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 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.34
Latest signed off version: v2.2 (18 Feb 2020)

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


Version 1.43
Latest signed off version: v1.2 (3 Mar 2020)

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


Version 1.70
Latest signed off version: v1.29 (15 Oct 2020)

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 Severe Paediatric Disorders


Version 1.127

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia 5, 616216