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  2. Osteogenesis imperfecta
  3. GHR
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Osteogenesis imperfecta

Gene: GHR

Red List (low evidence)
GHR (growth hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000112964
EnsemblGeneIds (GRCh37): ENSG00000112964
OMIM: 600946, Gene2Phenotype
GHR is in 9 panels

4 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Red List (low evidence)

This gene is associated with Short Stature Syndromes as opposed to the Osteogenesis Imperfecta phenotype.
Created: 14 Dec 2015, 10:02 a.m.
Created: 14 Dec 2015, 10:02 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is no evidence to support a causal role of this gene in this particular disease
Created: 28 Sep 2015, 1:49 p.m.

Phenotypes
Laron syndrome; growth hormone insensitivity syndrome (GHIS)

Created: 28 Sep 2015, 1:49 p.m.

Panel version: 0

Details

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

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GHR was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GHR was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen