PanelApp
  1. Genes and Genomic Entities
  2. MPL

MPL

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green MPL in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.62

2 reviews 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 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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 1.3512

    		1 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 0.110

    		0 reviews 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

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Amegakaryocytic thrombocytopaenia, congenital

    Green MPL in IBMDx study


    Version 0.38

    		1 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Thrombocytopenia, congenital amegakaryocytic, 604498 (3)

    Green MPL in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews 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


    Level 2: Screening
    Version 0.20

    		0 reviews 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498