CCT5

chaperonin containing TCP1 subunit 5
OMIM: 610150, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red CCT5 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840
    Red CCT5 in Pain syndromes

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.12

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Review
    • Literaure
    Phenotypes
    • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
    • HSAN with spastic paraplegia
    Red CCT5 in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
    • HSAN with spastic paraplegia
    Red CCT5 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neuropathy, hereditary sensory, with spastic paraplegia
    • Sensory Neuropathy with Spastic Paraplegia
    Red CCT5 in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Sensory Neuropathy with Spastic Paraplegia
    • Neuropathy, hereditary sensory, with spastic paraplegia
    Red CCT5 in Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • South West GLH
    Phenotypes
    • Sensory Neuropathy with Spastic Paraplegia
    • Neuropathy, hereditary sensory, with spastic paraplegia
    Red CCT5 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Neuropathy, hereditary sensory, with spastic paraplegia
    • Sensory Neuropathy with Spastic Paraplegia
    Red CCT5 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CCT5-related neurodevelopmental disorder with brain abnormalities
    Red CCT5 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
    • Sensory Neuropathy with Spastic Paraplegia
    • Sensory Neuropathy with Spastic Paraplegia
    • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
    Red CCT5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    • autosomal recessive mutilating sensory neuropathy with spastic paraplegia
    Red CCT5 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Red
    • UKGTN
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Sensory Neuropathy with Spastic Paraplegia
    • Neuropathy, hereditary sensory, with spastic paraplegia, 256840