1. Panels
  2. Monogenic short stature
  3. GHRHR
STRs in panel
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Monogenic short stature

Gene: GHRHR

Red List (low evidence)
GHRHR (growth hormone releasing hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000106128
EnsemblGeneIds (GRCh37): ENSG00000106128
OMIM: 139191, Gene2Phenotype
GHRHR is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Growth hormone deficiency
OMIM
139191
Clinvar variants
Variants in GHRHR
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: GHRHR was added gene: GHRHR was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHRHR were set to Growth hormone deficiency