Inherited bleeding disorders

Gene: ETV6

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

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

Phenotypes
Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia

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

Details

Mode of Inheritance
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
OMIM
600618
Clinvar variants
Variants in ETV6
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ETV6 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ETV6 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ETV6 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene