IUGR and IGF abnormalities

Gene: GHRHR

Green List (high evidence)

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

2 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Growth hormone deficiency
OMIM
139191
Clinvar variants
Variants in GHRHR
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for GHRHR were set to Growth hormone deficiency

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for GHRHR was changed to BIALLELIC, autosomal or pseudoautosomal

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GHRHR was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory