Inherited bleeding 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 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital amegakaryocytic thrombocytopenia (CAMT)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital amegakaryocytic thrombocytopenia (CAMT)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Congenital amegakaryocytic thrombocytopenia (CAMT)
OMIM
159530
Clinvar variants
Variants in MPL
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

MPL was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MPL was created by ellenmcdonagh