GHRHR

growth hormone releasing hormone receptor
OMIM: 139191, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GHRHR in Mendeliome


Version 2.0

1 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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GHRHR in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • isolated growth hormone deficiency type IB MONDO:0013006

Green GHRHR in Pituitary hormone deficiency

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

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

Green GHRHR in Growth failure


Version 2.0

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

Green GHRHR in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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