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  3. AMN
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Vitamin metabolism disorders

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

1 review

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

Created: 4 Feb 2021, 12:54 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.138

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Imerslund-Grasbeck syndrome 2 MIM#618882
  • Disorders of cobalamin absorption, transport and metabolism
OMIM
605799
Clinvar variants
Variants in AMN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AMN was added gene: AMN was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMN were set to 12590260; 27604308 Phenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 MIM#618882; Disorders of cobalamin absorption, transport and metabolism Review for gene: AMN was set to GREEN gene: AMN was marked as current diagnostic