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Early onset pancytopenia 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

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Details

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

History Filter Activity

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MPL was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Early onset pancytopenia and red cell disorderspanel. Source: Expert list

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MPL was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MPL was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MPL was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

25 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MPL was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Early onset pancytopenia and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

25 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MPL was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Early onset pancytopenia and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

25 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MPL was added to Early onset pancytopenia and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN