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Mendeliome

Gene: AMN

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 9:59 p.m. | Last Modified: 4 Sep 2021, 9:59 p.m.
Panel Version: 0.9037

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Imerslund-Grasbeck syndrome 2, MIM# 618882

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). AMN-related intrinsic factor receptor deficiency (Imerslund-Grasbeck syndrome) is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Created: 4 Feb 2021, 12:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Imerslund-Grasbeck syndrome 2 MIM#618882; Disorders of cobalamin absorption, transport and metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Imerslund-Grasbeck syndrome 2, MIM# 618882
OMIM
605799
Clinvar variants
Variants in AMN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amn has been classified as Green List (High Evidence).

4 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMN were changed from to Imerslund-Grasbeck syndrome 2, MIM# 618882

4 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AMN were set to

4 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AMN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AMN was added gene: AMN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMN was set to Unknown