GHSR

growth hormone secretagogue receptor
OMIM: 601898, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber GHSR in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth hormone deficiency, isolated partial, MIM# 615925

Amber GHSR in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.34

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated partial (615925)

Amber GHSR in Growth failure


Version 1.76

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated partial, MIM# 615925