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 1.182	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 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Thrombocytopenia, congenital amegakaryocytic, OMIM:604498 Tags somatic
Green MPL in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	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
Amber MPL in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Amegakaryocytic thrombocytopenia, congenital, 1
Green MPL in Thrombocythaemia Level 2: Haematology Version 1.12 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