Growth failure
Gene: GHRHR

GHRHR (growth hormone releasing hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000106128
EnsemblGeneIds (GRCh37): ENSG00000106128
OMIM: 139191, Gene2Phenotype
GHRHR is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IGHD type IV is characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I and IGF-binding protein-3 concentrations, and a good response to growth hormone treatment.

At least three unrelated families reported.
Created: 24 Aug 2021, 1:47 a.m. | Last Modified: 24 Aug 2021, 1:47 a.m.

Panel Version: 0.314

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth hormone deficiency, isolated, type IV, MIM# 618157

Publications

Created: 24 Aug 2021, 1:47 a.m.
Last Modified: 24 Aug 2021, 1:47 a.m.
Panel version: 0.314

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Growth hormone deficiency, isolated, type IV, MIM# 618157

OMIM

139191

Clinvar variants

Variants in GHRHR

Penetrance

None

Publications

Panels with this gene