C19orf12

chromosome 19 open reading frame 12
OMIM: 614297, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green C19orf12 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.52

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4, MIM# 614298

    Green C19orf12 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • neurodegeneration with brain iron accumulation 4 MONDO:0013674

    Green C19orf12 in Mendeliome


    Version 1.3795

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4, MIM# 614298
    • Spastic paraplegia 43, autosomal recessive, MIM# 615043

    Green C19orf12 in Optic Atrophy


    Level 2: Ophthalmological disorders
    Version 1.64

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • ?Spastic paraplegia 43, autosomal recessive 61504
    • Neurodegeneration with brain iron accumulation 4 614298

    Red C19orf12 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.307

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4 MIM#614298

    Green C19orf12 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red C19orf12 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4, MIM#614298

    Green C19orf12 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • neurodegeneration with brain iron accumulation 4 MONDO:0013674

    Green C19orf12 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.129

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4, 614298
    • Spastic paraplegia 43, autosomal recessive, 615043

    Green C19orf12 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs

    Green C19orf12 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4, 614298 (3)

    Green C19orf12 in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.3

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • GeneReviews
    Phenotypes
    • Mitochondrial membrane protein-associated neurodegeneration (MPAN)
    • Neurodegeneration with brain iron accumulation 4, MIM# 614298
    • Spastic paraplegia 43, autosomal recessive, MIM# 615043

    Green C19orf12 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration with brain iron accumulation 4, 614298 (3)