1. Panels
  2. Bone Marrow Failure
  3. ETV6
STRs in panel
Prev Next
Regions in panel
Prev Next

Bone Marrow Failure

Gene: ETV6

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

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia 5

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Created: 22 May 2024, 8:37 a.m.
Last Modified: 22 May 2024, 8:37 a.m.
Panel version: 1.91

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 unrelated families reported.
Sources: Expert list
Created: 2 Mar 2020, 1:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia 5, MIM# 616216

Publications

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

Created: 2 Mar 2020, 1:01 a.m.

Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia 5, MIM# 616216
OMIM
600618
Clinvar variants
Variants in ETV6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETV6 was added gene: ETV6 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ETV6 were set to 25581430; 25807284 Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216 Review for gene: ETV6 was set to GREEN gene: ETV6 was marked as current diagnostic