Cytopenias and congenital anaemias
Gene: AMN
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Publications for AMN were set to 15024727
This gene has been classified as Green List (High Evidence).
Mode of inheritance for AMN was changed to BIALLELIC, autosomal or pseudoautosomal
AMN was created by LouiseD
AMN was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen