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  2. Monogenic short stature
  3. GHSR
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Monogenic short stature

Gene: GHSR

Red List (low evidence)
GHSR (growth hormone secretagogue receptor)
EnsemblGeneIds (GRCh38): ENSG00000121853
EnsemblGeneIds (GRCh37): ENSG00000121853
OMIM: 601898, Gene2Phenotype
GHSR is in 4 panels

1 review

Melissa Connolly (WMRGL GLH)

Green List (high evidence)

Gene included in a list of the ten most prevalent genetic causes of isolated short stature in the International guideline on genetic testing of children with Short stature (Supplementary information 4). Text references reports of patients with low to normal IGF1 or SS with normal serum GH responses to GH stimulation testing.
Created: 17 Sep 2026, 1:35 p.m. | Last Modified: 17 Sep 2026, 5:31 p.m.
Panel Version: 2.9

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL

Publications

Created: 17 Sep 2026, 1:35 p.m.
Last Modified: 17 Sep 2026, 5:31 p.m.
Panel version: 2.9

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Idiopathic short stature, GH deficiency
OMIM
601898
Clinvar variants
Variants in GHSR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: GHSR was added gene: GHSR was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GHSR were set to 16511605 Phenotypes for gene: GHSR were set to Idiopathic short stature, GH deficiency