MPL

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MPL in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.158

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Congenital amegakaryocytic thrombocytopenia (CAMT)

Green MPL in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Congenital amegkaryocytic thrombocytopenia
  • Congenital Amegakaryocytic Thrombocytopenia
  • Amegakaryocytic Thrombocytopenia, Congenital
  • Thrombocytopenia, congenital amegakaryocytic, 604498
Tags
  • somatic

Green MPL in Bleeding and platelet disorders


Version 1.25
Latest signed off version: v1.24 (18 Aug 2021)

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
  • 604498 Thrombocytopenia, congenital amegakaryocytic

Green MPL in Cytopenia - NOT Fanconi anaemia


Version 1.36
Latest signed off version: v1.29 (15 Oct 2020)

review BOTH monoallelic and 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
  • 601977 Thrombocythemia 2
  • 604498 Thrombocytopenia, congenital amegakaryocytic
  • Thrombocytopenia, congenital amegakaryocytic, 604498

Green MPL in Severe Paediatric Disorders


Version 1.66

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 1.2
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, 601977

Green MPL in NewbornFullV1


Version 0.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green