CP

ceruloplasmin
OMIM: 117700, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

No list CP in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69

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 1.86

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 2.161
Latest signed off version: v2.23 (8 Oct 2020)

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 1.216

    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 1.18

    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


    Version 1.33
    Latest signed off version: v1.2 (3 Mar 2020)

    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 Neurodegenerative disorders - adult onset


    Version 2.174
    Latest signed off version: v2.31 (8 Oct 2020)

    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 1.457

    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 Inborn errors of metabolism


    Version 2.131
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1068
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 - adult onset


    Version 2.42
    Latest signed off version: v2.13 (6 Oct 2020)

    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 movement disorder


    Version 1.113
    Latest signed off version: v1.14 (15 Oct 2020)

    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 or chorea or related movement disorder


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

    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 1.76

    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