Cytopenias and congenital anaemias
Gene: MPLEnsemblGeneIds (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 teamCreated: 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.
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
-
- Thrombocytopenia, congenital amegakaryocytic, OMIM:604498
- Tags
- OMIM
- 159530
- Clinvar variants
- Variants in MPL
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MPL were changed from Inherited Bone Marrow Failure Syndromes - Thrombocytopenia; Congenital amegkaryocytic thrombocytopenia; Congenital Amegakaryocytic Thrombocytopenia; Amegakaryocytic Thrombocytopenia, Congenital; Thrombocytopenia, congenital amegakaryocytic, 604498 to Thrombocytopenia, congenital amegakaryocytic, OMIM:604498
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.
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.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for MPL were set to 10077649; 18024606
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
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
Created
Louise Daugherty (Genomics England Curator)MPL was created by LouiseD