CCT5

chaperonin containing TCP1 subunit 5
OMIM: 610150, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red CCT5 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

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


Version 1.10
Signed off v.1.2 on 27 Feb 2020

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 1.219

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 Hereditary spastic paraplegia - childhood onset


Version 2.25
Signed off v.2.18 on 8 Oct 2020

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 Hereditary spastic paraplegia - adult onset


Version 1.16
Signed off v.1.12 on 15 Oct 2020

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 Neurodegenerative disorders - adult onset


Version 2.38
Signed off v.2.31 on 8 Oct 2020

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 Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.740
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    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

    Green CCT5 in Severe Paediatric Disorders


    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuropathy, hereditary sensory, with spastic paraplegia, 256840