Cytopenias and congenital anaemias
Gene: AMNEnsemblGeneIds (GRCh38): ENSG00000166126
EnsemblGeneIds (GRCh37): ENSG00000166126
OMIM: 605799, Gene2Phenotype
AMN is in 8 panels
1 review
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Phenotype appropriate. Although limited to Norwegian (founder effect) and middle-Eastern (consanguinity) populations to date, there is sufficient evidence of causation. Also potentially treatable with cobalamin.Created: 28 Feb 2017, 2:19 p.m.
Several families associated with this disease and gene, however in populations with founder effect (Norwegian) or high levels of consanguinity (middle east). Less likely to be widely applicable, however phenotype is appropriate for inclusion and is potentially treatable with cobalamin; therefore include.Created: 28 Feb 2017, 11:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Norwegian type 261100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Megaloblastic anemia-1, Norwegian type, 261100
- Tags
- OMIM
- 605799
- Clinvar variants
- Variants in AMN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for AMN were set to 15024727
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for AMN was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Louise Daugherty (Genomics England Curator)AMN was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)AMN was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen