GHRHR

growth hormone releasing hormone receptor
OMIM: 139191, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green GHRHR in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Growth hormone deficiency
Green GHRHR in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Growth hormone deficiency, isolated, type IV (618157)
No list GHRHR in Osteogenesis imperfecta


Level 2: Musculoskeletal
Version 5.4
Latest signed off version: v5.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
  • curated_removed
Red GHRHR in Monogenic short stature


Level 2: Endocrinology
Version 1.31
Latest signed off version: v1.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Growth hormone deficiency