IGFALS

insulin like growth factor binding protein acid labile subunit
OMIM: 601489, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green IGFALS in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acid-labile subunit, deficiency of, OMIM:615961
  • Short stature
  • Delayed puberty
  • Very low IGF-I levels
Green IGFALS in Growth failure in early childhood


Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acid-labile subunit, deficiency of, OMIM:615961
Green IGFALS in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Acid-labile subunit, deficiency of, 615961