Genomics England
GMS Panels
Panels
Genes and Entities

CP

ceruloplasmin
OMIM: 117700
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, OMIM:604290, Hypoceruloplasminemia, hereditary, OMIM:604290, Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Cerebellar ataxia, OMIM:604290, Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemosiderosis, systemic, due to aceruloplasminemia, 604290, Cerebellar ataxia, 604290, Aceruloplasminemia, 604290
Green
in Iron metabolism disorders - NOT common HFE mutations
R-numbers: R96
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
aceruloplasminemia MONDO:0011426, Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290
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
Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290