MPL

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green MPL in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.52	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Green MPL in Bone Marrow Failure Level 2: Haematological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myelofibrosis with myeloid metaplasia, somatic, MIM#254450 Thrombocythemia 2, MIM#601977, AD, SMu Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Green MPL in Mendeliome Version 1.2374	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myelofibrosis with myeloid metaplasia, somatic, MIM#254450 Thrombocythemia 2, MIM#601977, AD, SMu Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Green MPL in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Green MPL in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Amegakaryocytic thrombocytopaenia, congenital
Green MPL in IBMDx study Version 0.35	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocythemia 2, MIM#601977, AD, SMu Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR Myelofibrosis with myeloid metaplasia, somatic, MIM#254450
Green MPL in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Green MPL in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 Tags treatable haematological
Green MPL in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Green MPL in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3)