1. Panels
  2. IBMDx study
  3. ETV6
STRs in panel
Prev Next
Regions in panel
Prev Next

IBMDx study

Gene: ETV6

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

1 review

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: Imported from Bone Marrow Failure panel version 0.31

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia 5, MIM# 616216
OMIM
600618
Clinvar variants
Variants in ETV6
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETV6 was added gene: ETV6 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: ETV6 was set to Unknown Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216