IUGR and IGF abnormalities

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

2 reviews

Peter Clayton (University of Manchester)

Red List (low evidence)

Mehul Dattani (UCL Institute of Child Health)

Red List (low evidence)

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
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Oct 2015, Gel status: 0

Added New Source

Mehul Dattani (UCL Institute of Child Health)

GHSR was added to IUGR and IGF abnormalitiespanel. Sources: Expert Review,Literature

26 Oct 2015, Gel status: 0

Created

Mehul Dattani (UCL Institute of Child Health)

GHSR was created by mdattani