GH1

growth hormone 1
OMIM: 139250, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GH1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth hormone deficiency, isolated, type IA, MIM# 262400
  • Growth hormone deficiency, isolated, type II, MIM# 173100
  • Kowarski syndrome, MIM# 262650

Green GH1 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.34

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated, type IA (262400)
  • Growth hormone deficiency, isolated, type IB (612781)
  • Growth hormone deficiency, isolated, type II (173100)

Green GH1 in Growth failure


Version 1.76

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency, isolated, type IA, MIM# 262400
  • Growth hormone deficiency, isolated, type II, MIM# 173100
  • Kowarski syndrome, MIM# 262650

Green GH1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Growth hormone deficiency, isolated, type IA, MIM# 262400
  • Kowarski syndrome, MIM# 262650
  • Growth hormone deficiency, isolated, type II, MIM# 173100
Tags
  • treatable
  • endocrine