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  3. MPL
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Thrombocythaemia

Gene: MPL

Green List (high evidence)
MPL (MPL proto-oncogene, thrombopoietin receptor)
EnsemblGeneIds (GRCh38): ENSG00000117400
EnsemblGeneIds (GRCh37): ENSG00000117400
OMIM: 159530, Gene2Phenotype
MPL is in 6 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

Created: 20 Aug 2020, 2:55 p.m.
Last Modified: 20 Aug 2020, 2:55 p.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Thrombocythemia 2, OMIM:601977
OMIM
159530
Clinvar variants
Variants in MPL
Penetrance
None
Panels with this gene

History Filter Activity

12 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MPL were changed from Thrombocythemia 2, 601977 to Thrombocythemia 2, OMIM:601977

20 Aug 2020, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: MPL was added gene: MPL was added to Thrombocythaemia. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MPL were set to Thrombocythemia 2, 601977