1. Panels
  2. Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)
  3. ETV6
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)

Gene: ETV6

Green List (high evidence)
ETV6 (ETS variant 6)
EnsemblGeneIds (GRCh38): ENSG00000139083
EnsemblGeneIds (GRCh37): ENSG00000139083
OMIM: 600618, Gene2Phenotype
ETV6 is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #616216) and the OMIM record was last accessed on 20 December 2025.
Created: 20 Dec 2025, 6:32 p.m. | Last Modified: 20 Dec 2025, 6:32 p.m.
Panel Version: 1.2
ETV6 has been added to the panel for R366 Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 2:19 p.m. | Last Modified: 30 Jun 2023, 2:19 p.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 30 Jun 2023, 2:19 p.m.
Last Modified: 30 Jun 2023, 2:19 p.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Thrombocytopenia 5, OMIM:616216
  • thrombocytopenia 5, MONDO:0014536
OMIM
600618
Clinvar variants
Variants in ETV6
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ETV6 were changed from to Thrombocytopenia 5, OMIM:616216; thrombocytopenia 5, MONDO:0014536

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ETV6 was added gene: ETV6 was added to Inherited susceptibility to acute lymphoblastoid leukaemia (ALL). Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown