Cytopenia - NOT Fanconi anaemia

Gene: ETV6

Green List (high evidence)

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

3 reviews

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted 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.
Created: 14 Feb 2019, 5:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
616216 Thrombocytopenia 5

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia and susceptibility to cancer; North West GLH: no comment submitted; Yorkshire and North East GLH:mainly somatic AML and some thrombocytopenia; London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Created: 22 Jul 2019, 1:27 p.m. | Last Modified: 22 Jul 2019, 1:27 p.m.
Panel Version: 0.82
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 initial 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: 616216 Thrombocytopenia 5; PMID(s): none submitted
Created: 14 Feb 2019, 5:40 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: 616216 Thrombocytopenia 5; PMID(s): 25581430; 25807284
Created: 8 Feb 2019, 1:43 p.m.

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
616216 Thrombocytopenia 5

Details

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

History Filter Activity

4 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Green was added to ETV6.

4 Nov 2019, Gel status: 3

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ETV6. Source North West GLH was added to ETV6.

22 Jul 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).

14 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6

14 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ETV6.

8 Feb 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ETV6. Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Feb 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6 Publications for gene ETV6 were changed from to 25581430; 25807284

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ETV6.

8 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 Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: ETV6 was set to