CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10
OMIM: 615903, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red CHCHD10 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209

Green CHCHD10 in Neuromuscular disorders


Version 5.47
Signed off v.5.43 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, Jokela type 615048
  • ?Myopathy, isolated mitochondrial, autosomal dominant 616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911

Red CHCHD10 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Signed off v.3.2 on 13 Feb 2020

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209

Red CHCHD10 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.5
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Myopathy, isolated mitochondrial, autosomal dominant 616209
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
    • Spinal muscular atrophy, Jokela type 615048
    Tags
    • adult-onset

    Green CHCHD10 in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209

    Green CHCHD10 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.414

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
    • Spinal muscular atrophy, Jokela type

    Green CHCHD10 in Inborn errors of metabolism


    Version 2.8
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
    • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
    • Spinal muscular atrophy, Jokela type

    Green CHCHD10 in Possible mitochondrial disorder - nuclear genes


    Version 1.15
    Signed off v.1.13 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spinal muscular atrophy, Jokela type 615048
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911
    • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209

    Red CHCHD10 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.29

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209

    Green CHCHD10 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.32
    Signed off v.1.30 on 4 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinal muscular atrophy, Jokela type 615048

    Green CHCHD10 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.368

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinal muscular atrophy, Jokela type: 615048

    Green CHCHD10 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
    • Spinal muscular atrophy, Jokela type

    Green CHCHD10 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Green
    • South West GLH
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spinal muscular atrophy, Jokela type: 615048

    Red CHCHD10 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green CHCHD10 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
    • Spinal muscular atrophy, Jokela type, 615048
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911