Genomics England
GMS Panels
Panels
Genes and Entities

CUBN

cubilin
OMIM: 602997
PanelMode of inheritanceDetails
4 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
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
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.0
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Finnish type, 261100, Megaloblastic Anemia, 261100 Megaloblastic anemia-1, Finnish type
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100