BabyScreen+ newborn screening
Gene: AMN

AMN (amnion associated transmembrane protein)
EnsemblGeneIds (GRCh38): ENSG00000166126
EnsemblGeneIds (GRCh37): ENSG00000166126
OMIM: 605799, Gene2Phenotype
AMN is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood.

Clinical features include failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections.

Treatment: cobalamin.
Created: 21 Sep 2022, 8:43 a.m. | Last Modified: 21 Sep 2022, 8:44 a.m.

Panel Version: 0.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megaloblastic anaemia-1, Norwegian type, MIM#618882

Created: 21 Sep 2022, 8:43 a.m.
Last Modified: 21 Sep 2022, 8:44 a.m.
Panel version: 0.83

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category A gene
BeginNGS

Phenotypes

Megaloblastic anemia-1, Norwegian type, MIM#618882

Tags

treatable haematological

OMIM

605799

Clinvar variants

Variants in AMN

Penetrance

None

Panels with this gene