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Thrombocythaemia

Gene: THPO

Green List (high evidence)

THPO (thrombopoietin)
EnsemblGeneIds (GRCh38): ENSG00000090534
EnsemblGeneIds (GRCh37): ENSG00000090534
OMIM: 600044, Gene2Phenotype
THPO is in 8 panels

1 review

Arina Puzriakova (Genomics England Curator)

This gene has been added to the panel with a Green rating on the recommendation of the GMS specialist disease group experts.
Created: 20 Aug 2020, 2:55 p.m. | Last Modified: 20 Aug 2020, 2:55 p.m.
Panel Version: 0.1

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Thrombocythemia 1, 187950
OMIM
600044
Clinvar variants
Variants in THPO
Penetrance
None
Panels with this gene

History Filter Activity

20 Aug 2020, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: THPO was added gene: THPO was added to Thrombocythaemia. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THPO were set to Thrombocythemia 1, 187950