Red cell disorders
Gene: AMNEnsemblGeneIds (GRCh38): ENSG00000166126
EnsemblGeneIds (GRCh37): ENSG00000166126
OMIM: 605799, Gene2Phenotype
AMN is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- Wessex and West Midlands GLH
- North West GLH
- London South GLH
- Phenotypes
-
- Imerslund-Grasbeck syndrome 2, MIM# 618882
- OMIM
- 605799
- Clinvar variants
- Variants in AMN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: amn has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AMN were set to 17285242; 12590260
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes 261100 Megaloblastic anemia-1, Norwegian type; Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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