THPO

thrombopoietin
OMIM: 600044, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red THPO in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

review Not set
Sources
  • Emory Genetics Laboratory
Amber THPO in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Thrombocythemia 1, 187950
    Green THPO in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.178

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Thrombocytopenia and thrombocythemia 1
    Red THPO in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Thrombocythemia 1 187950 (rare presentation with congenital limb defects)
    Green THPO in Bleeding and platelet disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 187950 Thrombocytopenia and thrombocythemia 1
    Green THPO in Cytopenia - NOT Fanconi anaemia


    Version 3.34
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert review Green
    • Wessex and West Midlands GLH
    • North West GLH
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London South GLH
    Phenotypes
    • 187950 Thrombocythemia 1
    • Thrombocythemia 1, 187950
    Green THPO in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Thrombocythemia 1, 187950
    Green THPO 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 1, 187950