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  2. Bleeding and Platelet Disorders
  3. ETV6
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Bleeding and Platelet Disorders

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 families reported.
Sources: Expert list
Created: 12 Aug 2020, 3:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopaenia 5, MIM# 616216

Publications

Created: 12 Aug 2020, 3:46 a.m.

Panel version: 1.2

Details

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

History Filter Activity

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ETV6 were changed from Thrombocytopenia 5, MIM# 616216 to Thrombocytopaenia 5, MIM# 616216

12 Aug 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).

12 Aug 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).

12 Aug 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 Bleeding Disorders. 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