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Pain syndromes

Gene: CCT5

Amber List (moderate evidence)
CCT5 (chaperonin containing TCP1 subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000150753
EnsemblGeneIds (GRCh37): ENSG00000150753
OMIM: 610150, Gene2Phenotype
CCT5 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single Morrocan family reported in 2006. The missense in this family (H147R) has been assessed in biochemical assays in E coli and archaea bacteria P furiosus, and shown a reduced chaperonin efficiency. Also, C450Y in related chaperonin CCT4 was identified in a stock of Sprague-Dawley rats with an early onset sensory neuropathy.
Created: 25 Feb 2021, 4:55 a.m. | Last Modified: 25 Feb 2021, 4:55 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840

Publications

Created: 25 Feb 2021, 4:55 a.m.
Last Modified: 25 Feb 2021, 4:55 a.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
  • HSAN with spastic paraplegia
OMIM
610150
Clinvar variants
Variants in CCT5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cct5 has been classified as Amber List (Moderate Evidence).

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cct5 has been classified as Amber List (Moderate Evidence).

1 Apr 2020, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Red was added to CCT5. Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia for gene: CCT5 Rating Changed from Green List (high evidence) to Red List (low evidence)

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCT5 was added gene: CCT5 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT5 were set to 12874111; 16399879; 25124038; 28623285 Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia