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Skeletal dysplasia

Gene: GHR

Green List (high evidence)

GHR (growth hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000112964
EnsemblGeneIds (GRCh37): ENSG00000112964
OMIM: 600946, Gene2Phenotype
GHR is in 10 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Not listed in SD nosology paper - growth disorder. Many cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Laron dwarfism, 262500; Growth hormone insensitivity; increased responsiveness to growth hormone 604271

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GHR; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:49 p.m.

Details

Mode of Inheritance
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
OMIM
600946
Clinvar variants
Variants in GHR
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes increased responsiveness to growth hormone 604271; Laron dwarfism, 262500; Growth hormone insensitivity for gene: GHR

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GHR. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GHR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GHR was created by sleigh

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GHR was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red