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  3. MPL
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Anaemias and red cell 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 6 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital amegakaryocytic thrombocytopenia (CAMT)

Publications

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Congenital amegkaryocytic thrombocytopenia
  • Congenital Amegakaryocytic Thrombocytopenia
  • Amegakaryocytic Thrombocytopenia, Congenital
OMIM
159530
Clinvar variants
Variants in MPL
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services MPL was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MPL was created by ellenmcdonagh

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list