Genomics England

CP

ceruloplasmin

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	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 5.4	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 5.3	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 5.3	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 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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290