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  3. MPL
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Bleeding and Platelet Disorders

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 15 Aug 2020, 8:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombocytopenia, congenital amegakaryocytic, MIM# 604498

Publications

Created: 15 Aug 2020, 8:04 a.m.

Panel version: 0.119

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Loss of function and gain of function are known mechanisms of disease in this gene and are associated with autosomal recessive congenital amegakaryocytic thrombocytopenia (CAMT) (MIM# 604498) and autosomal dominant thrombocythemia 2 (MIM#601977), respectively (PMIDs: 28955303, 26423830).
Created: 24 Jul 2020, 12:54 a.m. | Last Modified: 24 Jul 2020, 12:54 a.m.
Panel Version: 0.3496

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Jul 2020, 12:54 a.m.
Last Modified: 24 Jul 2020, 12:54 a.m.
Panel version: Imported from Mendeliome panel version 0.3496

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
OMIM
159530
Clinvar variants
Variants in MPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2020, 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).

15 Aug 2020, 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).

15 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: MPL was added gene: MPL was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPL were set to 11133753 Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 Review for gene: MPL was set to GREEN