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Prepair 1000+

Gene: AMN

No list

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

2 reviews

Andrew Coventry (Victorian Clinical Genetics Services)

I don't know

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. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment.

Well established condition, early onset, treatable. ?for review, severity.
Created: 6 Mar 2025, 5:57 a.m. | Last Modified: 6 Mar 2025, 5:57 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Imerslund-Grasbeck syndrome 2 MIM#618882

Publications

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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.
Sources: Literature
Created: 25 Aug 2023, 5:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Imerslund-Grasbeck syndrome 2 (MIM#618882)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Imerslund-Grasbeck syndrome 2 (MIM#618882)
OMIM
605799
Clinvar variants
Variants in AMN
Penetrance
None
Panels with this gene

History Filter Activity

25 Aug 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: AMN was added gene: AMN was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 (MIM#618882) Review for gene: AMN was set to AMBER