Genomics England
GMS Panels
Panels
Genes and Entities

AMN

amnion associated transmembrane protein
OMIM: 605799
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism), 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, Norwegian type, OMIM:261100
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Norwegian type, 261100, 261100 Megaloblastic anemia-1, Norwegian type
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Norwegian type 261100