Genomics England
GMS Panels
Panels
Genes and Entities

IGFALS

insulin like growth factor binding protein acid labile subunit
OMIM: 601489
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acid-labile subunit, deficiency of, OMIM:615961, short stature due to primary acid-labile subunit deficiency, MONDO:0014420
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acid-labile subunit, deficiency of, OMIM:615961, short stature due to primary acid-labile subunit deficiency, MONDO:0014420