Inherited predisposition to acute myeloid leukaemia (AML)

Gene: ETV6

Green List (high evidence)

ETV6 (ETS variant 6)
EnsemblGeneIds (GRCh38): ENSG00000139083
EnsemblGeneIds (GRCh37): ENSG00000139083
OMIM: 600618, Gene2Phenotype
ETV6 is in 8 panels

5 reviews

Paula Page (WWMGLH)

Green List (high evidence)

On the current WWMGLH Familial MDS/AML panel. In WHO classification. Testing recommended in AML ELN guidelines and by Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378).
Created: 7 Mar 2019, 11:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic

Publications

Variants in this GENE are reported as part of current diagnostic practice

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
600618 / 601626 Leukemia, acute myeloid, somatic

Variants in this GENE are reported as part of current diagnostic practice

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 2:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
601626 Leukemia, acute myeloid, somatic

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Created: 18 Mar 2019, 4:27 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600618 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Created: 18 Feb 2019, 2:12 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Created: 14 Feb 2019, 2:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested intial gene rating: not submitted; Are variants in this gene part of your current diagnostic practice? not submitted; MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 137295 (OMIN gene description ID); PMID(s): 23926458; 28600339
Created: 5 Feb 2019, 8:10 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating (none submitted) by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 8:08 p.m.

Details

Mode of Inheritance
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
OMIM
600618
Clinvar variants
Variants in ETV6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to Leukemia, acute myeloid, somatic, OMIM:601626; Thrombocytopenia 5, OMIM:616216; Acute myeloid leukemia, MONDO:0018874

3 Mar 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ETV6 were set to 28600339

18 Mar 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic

18 Mar 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ETV6 were changed from 600618 / 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic

18 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: etv6 has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 600618 / 601626 Leukemia, acute myeloid, somatic for gene: ETV6

18 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ETV6.

14 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 601626 Leukemia, acute myeloid, somatic for gene: ETV6

14 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ETV6.

5 Feb 2019, Gel status: 2

Added New Source, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ETV6. Added phenotypes 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID) for gene: ETV6

5 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ETV6. Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID) for gene: ETV6 Publications for gene ETV6 were changed from to 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ETV6 was added gene: ETV6 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ETV6 was set to