CUBN

PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism), Megaloblastic anemia-1, Finnish type, Proteinuric renal disease, Unexplained kidney failure in young people
R-numbers: R195
Signed-off version 2.32
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Finnish type, 261100, Megaloblastic Anemia, (originally on the Imerslund-Grasbeck syndrome gene panel)
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Finnish type, 261100, Megaloblastic Anemia, 261100 Megaloblastic anemia-1, Finnish type
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100