GHR

growth hormone receptor
OMIM: 600946, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green GHR in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.35

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Laron syndrome

Red GHR in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.27

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laron dwarfism, 262500
  • Short stature, 604271
  • {Hypercholesterolemia, familial, modification of}, 143890
  • Increased responsiveness to growth hormone

Green GHR in Pituitary hormone deficiency


Version 2.6
Latest signed off version: v2.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Laron dwarfism (262500)
  • Increased responsiveness to growth hormone (604271)
  • Growth hormone insensitivity, partial (604271)

Green GHR in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.97
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • {Hypercholesterolemia, familial, modification of}, 143890
    • Growth hormone insensitivity
    • Short stature, 604271
    • increased responsiveness to growth hormone 604271
    • Increased responsiveness to growth hormone
    • Laron dwarfism, 262500
    • Proportionate Short Stature/Small for Gestational Age

    Red GHR in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PITUITARY DWARFISM II

    Red GHR in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.13
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Laron dwarfism, 262500
    • Short stature, 604271
    • {Hypercholesterolemia, familial, modification of}, 143890
    • Increased responsiveness to growth hormone
    • Proportionate Short Stature/Small for Gestational Age

    Green GHR in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PITUITARY DWARFISM II 262500

    Red GHR in Growth failure in early childhood


    Version 1.67
    Latest signed off version: v1.4 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Laron syndrome

    Red GHR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1069
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Laron dwarfism, 262500
    • Short stature, 604271
    • {Hypercholesterolemia, familial, modifier of}, 143890
    • Increased responsiveness to growth hormone

    Green GHR in Severe Paediatric Disorders


    Version 1.76

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Laron dwarfism, 262500
    • Increased responsiveness to growth hormone, 604271
    • Growth hormone insensitivity, partial, 604271