Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

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

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green after review by the curation team
Created: 10 Mar 2017, 12:32 p.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green after discussion with clinical team: Pancytopenia tends to be seen in more severe forms of the disorder. Although pancytopenia is not present in every case, because it does feature within MIM:604498, this disorder should be on the panel. Sufficient cases of MPL variants to support causation.
Created: 9 Mar 2017, 2:26 p.m.
Comment on list classification: Updated rating from Green to Amber: Thrombocytopenia is out of scope for this panel, but the MIM:604498 phenotype includes pancytopenia (bi-cytopenia if both red cells and platelets are reduced in number).
Created: 9 Mar 2017, 11:55 a.m.
Thromobocytopaenia is currently out the scope for this panel unless criteria is widened to platelet disorders (Note MPL is rated Green on 'Inherited bleeding disorders' panel, which is appropriate). However, the clinical spectrum of 'Thrombocytopenia, congenital amegakaryocytic, MIM:604498' includes 'childhood pancytopenia' which is within the inclusion criteria for this panel.
Created: 8 Mar 2017, 10:16 a.m.
Somatic and Germline variants reported in COSMIC gene census.
Created: 8 Mar 2017, 10:08 a.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Congenital amegkaryocytic thrombocytopenia
  • Congenital Amegakaryocytic Thrombocytopenia
  • Amegakaryocytic Thrombocytopenia, Congenital
  • Thrombocytopenia, congenital amegakaryocytic, 604498
Tags
somatic
OMIM
159530
Clinvar variants
Variants in MPL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Jun 2019, Gel status: 3

Removed Tag, Added Tag

Louise Daugherty (Genomics England Curator)

Tag somatic-germline was removed from gene: MPL. Tag somatic tag was added to gene: MPL.

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Mar 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MPL were set to 10077649; 18024606

8 Mar 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for MPL were set to Inherited Bone Marrow Failure Syndromes - Thrombocytopenia; Congenital amegkaryocytic thrombocytopenia; Congenital Amegakaryocytic Thrombocytopenia; Amegakaryocytic Thrombocytopenia, Congenital; Thrombocytopenia, congenital amegakaryocytic, 604498

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

MPL was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

MPL was created by LouiseD