GHRHR

growth hormone releasing hormone receptor
OMIM: 139191, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GHRHR in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth hormone deficiency, isolated, type IV, MIM# 618157

Green GHRHR in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GHRHR in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.34

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated, type IV (618157)

Green GHRHR in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated, type IV, MIM# 618157

Green GHRHR in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Growth hormone deficiency, isolated, type IV, MIM# 618157
Tags
  • treatable
  • endocrine