CP

ceruloplasmin
OMIM: 117700, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
No list CP in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Green CP in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Dystonia Aceruloplasminemia Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green CP in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green CP in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green CP in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia 604290 Hemosiderosis, systemic, due to aceruloplasminemia 604290 [Hypoceruloplasminemia, hereditary] 604290
Green CP in Iron metabolism disorders - NOT common HFE mutations Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes aceruloplasminemia MONDO:0011426 Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290
Green CP in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dystonia Cerebellar ataxia, OMIM:604290 Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290
Green CP in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia 604290 Hemosiderosis, systemic, due to aceruloplasminemia 604290 [Hypoceruloplasminemia, hereditary] 604290
Green CP in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Red CP in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes [Hypoceruloplasminemia, hereditary], 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Green CP in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Aceruloplasminemia, 604290
Green CP in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Cerebellar ataxia, OMIM:604290 Hypoceruloplasminemia, hereditary, OMIM:604290 Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290
Red CP in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Cerebellar ataxia 604290 Dystonia [Hypoceruloplasminemia, hereditary] 604290 Aceruloplasminemia Hemosiderosis, systemic, due to aceruloplasminemia 604290
Green CP in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Cerebellar ataxia, 604290