C19orf12

chromosome 19 open reading frame 12
OMIM: 614297, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels
Green C19orf12 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Emory Genetics Laboratory
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London North GLH
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Childhood onset hereditary spastic paraplegia


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Adult onset hereditary spastic paraplegia


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Adult onset neurodegenerative disorder


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.620

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green C19orf12 in Likely inborn error of metabolism - targeted testing not possible


Version 5.8
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
    • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
    Red C19orf12 in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4, 614298
    • ?Spastic paraplegia 43, autosomal recessive, 615043
    Red C19orf12 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 43, autosomal recessive, 615043
    • Neurodegeneration with brain iron accumulation 4, 614298
    • SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
    Red C19orf12 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • ?Spastic paraplegia 43, autosomal recessive 615043
    • Neurodegeneration with brain iron accumulation 4 614298
    Red C19orf12 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4, 614298
    • Mitochondrial Membrane Protein-Associated Neurodegeneration
    Green C19orf12 in Adult onset dystonia, chorea or related movement disorder


    Version 3.19
    Latest signed off version: v3.12 (31 Jul 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • ?Spastic paraplegia 43, autosomal recessive OMIM:615043
    • hereditary spastic paraplegia 43 MONDO:0014024
    • Neurodegeneration with brain iron accumulation 4 OMIM:614298
    • neurodegeneration with brain iron accumulation 4 MONDO:0013674
    Red C19orf12 in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
    • Spastic paraplegia 43, autosomal recessive, 615043
    • Neurodegeneration with brain iron accumulation 4, 614298
    Green C19orf12 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
    • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
    Green C19orf12 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Spastic paraplegia 43, autosomal recessive, 615043
    • Neurodegeneration with brain iron accumulation 4, 614298