Red cell disorders
Gene: AMN
Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood.
Well established gene-disease association.Created: 4 Sep 2021, 9:57 p.m. | Last Modified: 4 Sep 2021, 9:57 p.m.
Panel Version: 0.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Imerslund-Grasbeck syndrome 2, MIM# 618882
Publications
Gene: amn has been classified as Green List (High Evidence).
Phenotypes for gene: AMN were changed from 261100 Megaloblastic anemia-1, Norwegian type; Megaloblastic anemia-1, Norwegian type, 261100 to Imerslund-Grasbeck syndrome 2, MIM# 618882
Publications for gene: AMN were set to 17285242; 12590260
Added phenotypes 261100 Megaloblastic anemia-1, Norwegian type; Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN
gene: AMN was added gene: AMN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMN were set to 17285242; 12590260 Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, 261100; 261100 Megaloblastic anemia-1, Norwegian type