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 1.70

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
Amber IGFALS in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Acid-labile subunit, deficiency of, OMIM:615961
    • short stature due to primary acid-labile subunit deficiency, MONDO:0014420
    Tags
    • Q2_25_ promote_green
    • Q2_25_ NHS_review
    Green IGFALS 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 Green
    • NHS GMS
    Phenotypes
    • Acid-labile subunit, deficiency of, OMIM:615961
    • short stature due to primary acid-labile subunit deficiency, MONDO:0014420