MPL

MPL proto-oncogene, thrombopoietin receptor
OMIM: 159530, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green MPL in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Thrombocytopenia, congenital amegakaryocytic, OMIM:604498
Green MPL in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert list Radboud University Medical Center, Nijmegen Phenotypes Thrombocytopenia, congenital amegakaryocytic, OMIM:604498 Tags somatic
Green MPL in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Thrombocytopenia, congenital amegakaryocytic, OMIM:604498
Green MPL in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert review Green Wessex and West Midlands GLH Expert Review Green North West GLH Yorkshire and North East GLH NHS GMS London South GLH Phenotypes Thrombocytopenia, congenital amegakaryocytic, OMIM:604498
Green MPL in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 Thrombocythemia 2, 601977
Green MPL in Thrombocythaemia Level 3: Haemostasis disorders Level 2: Haematological disorders Version 1.5 Latest signed off version: v1.1 (30 Sep 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Thrombocythemia 2, OMIM:601977