GHSR:Ensemblv90

growth hormone secretagogue receptor
OMIM: 601898, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber GHSR in Mendeliome


Version 1.3802

1 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 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 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 1.87

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

Amber GHSR in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

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

Amber GHSR in Growth failure


Version 2.0

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