IBMDx study
Gene: MPL
MPL (MPL proto-oncogene, thrombopoietin receptor)
EnsemblGeneIds (GRCh38): ENSG00000117400
EnsemblGeneIds (GRCh37): ENSG00000117400
OMIM: 159530, Gene2Phenotype
MPL is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000117400
EnsemblGeneIds (GRCh37): ENSG00000117400
OMIM: 159530, Gene2Phenotype
MPL is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 2:27 a.m. | Last Modified: 24 Jul 2020, 2:27 a.m.
Panel Version: 0.71
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myelofibrosis with myeloid metaplasia, somatic, MIM#254450; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Thrombocythemia 2, MIM#601977, AD, SMu
- Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
- Myelofibrosis with myeloid metaplasia, somatic, MIM#254450
- OMIM
- 159530
- Clinvar variants
- Variants in MPL
- 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: MPL was added gene: MPL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: MPL was set to Unknown Phenotypes for gene: MPL were set to Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Myelofibrosis with myeloid metaplasia, somatic, MIM#254450