Pituitary hormone deficiency

Gene: GHR

Green List (high evidence)

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

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:02 p.m.
Comment on list classification: Promoted from amber to green. GHR is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel. There are >3 unrelated cases of patients with Laron syndrome who have variants in the GHR gene listed in OMIM.
Created: 8 Jan 2019, 2:42 p.m.

Details

Mode of Inheritance
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)
OMIM
600946
Clinvar variants
Variants in GHR
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ghr has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ghr has been classified as Green List (High Evidence).

10 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GHR was added gene: GHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to Laron dwarfism (262500); Increased responsiveness to growth hormone (604271); Growth hormone insensitivity, partial (604271)