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Gene: MPL

Green List (high evidence)
MPL (MPL proto-oncogene, thrombopoietin receptor)
EnsemblGeneIds (GRCh38): ENSG00000117400
EnsemblGeneIds (GRCh37): ENSG00000117400
OMIM: 159530, Gene2Phenotype
MPL is in 10 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Congenital amegakaryocytic thrombocytopenia-1 (CAMT1) is an autosomal recessive disorder characterised by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood. The disorder is progressive and evolves to pancytopenia and bone marrow failure. Serum thrombopoietin is elevated. There is a favorable response to bone marrow transplantation.

HGNC approved symbol/name: MPL
Is the phenotype(s) severe and onset <18yo?
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: MPL is associated with thrombocythemia 2 (AD)
Created: 29 Jan 2025, 3:46 a.m. | Last Modified: 29 Jan 2025, 3:46 a.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498

Publications

Created: 29 Jan 2025, 3:46 a.m.
Last Modified: 29 Jan 2025, 3:46 a.m.
Panel version: 1.1367

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
OMIM
159530
Clinvar variants
Variants in MPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpl has been classified as Green List (High Evidence).

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MPL were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3) for gene: MPL

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPL was added gene: MPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)