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IBMDx study

Gene: THPO

Green List (high evidence)
THPO (thrombopoietin)
EnsemblGeneIds (GRCh38): ENSG00000090534
EnsemblGeneIds (GRCh37): ENSG00000090534
OMIM: 600044, Gene2Phenotype
THPO is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both thrombotic and bleeding episodes described with this platelet disorder.
Sources: Expert list
Created: 16 Aug 2020, 7:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocythemia 1, MIM# 187950

Publications

Created: 16 Aug 2020, 7:57 a.m.

Panel version: Imported from Bleeding and Platelet Disorders panel version 0.179

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia progressing to trilineage bone marrow failure
OMIM
600044
Clinvar variants
Variants in THPO
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: THPO was added gene: THPO was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: THPO was set to Unknown Phenotypes for gene: THPO were set to Thrombocytopenia progressing to trilineage bone marrow failure