Pituitary hormone deficiency
Gene: GHREnsemblGeneIds (GRCh38): ENSG00000112964
EnsemblGeneIds (GRCh37): ENSG00000112964
OMIM: 600946, Gene2Phenotype
GHR is in 9 panels
3 reviews
Catherine Snow (Genomics England)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains GREENCreated: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 4:39 p.m.
Panel Version: 2.106
Arina Puzriakova (Genomics England Curator)
Review submitted on behalf of Helen Storr - "This gene is currently on panel R159.1 Pituitary hormone deficiency. It should be removed from this panel as it does not cause GH deficiency - it is causes defective GH signalling."
Variants in this gene confer dysfunction of the growth hormone receptor resulting in altered signalling. GH levels are typically normal or increased and therefore inclusion of GHR on this panel should be re-evaluated by the GMS Endocrinology Specialist Test Group.
GHR may possibly be more appropriate for R147 Growth failure in early childhood, but relevance is currently also pending expert review (https://panelapp.genomicsengland.co.uk/panels/473/gene/GHR/)Created: 4 Jan 2023, 2:53 p.m. | Last Modified: 4 Jan 2023, 2:57 p.m.
Panel Version: 2.104
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, OMIM:262500
- Growth hormone insensitivity, partial, OMIM:604271
- Increased responsiveness to growth hormone, OMIM:604271
- OMIM
- 600946
- Clinvar variants
- Variants in GHR
- Penetrance
- None
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Catherine Snow (Genomics England)Tag Q1_23_demote_red was removed from gene: GHR. Tag Q1_23_expert_review was removed from gene: GHR.
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_23_demote_red tag was added to gene: GHR. Tag Q1_23_expert_review tag was added to gene: GHR.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GHR were changed from Laron dwarfism (262500); Increased responsiveness to growth hormone (604271); Growth hormone insensitivity, partial (604271) to Laron dwarfism, OMIM:262500; Growth hormone insensitivity, partial, OMIM:604271; Increased responsiveness to growth hormone, OMIM:604271
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment on list classification
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ghr has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ghr has been classified as Green List (High Evidence).
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)