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Hereditary Neuropathy - complex

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

Now two families reported with two different missense variants (Leu224Val and His147Arg).
Created: 14 Aug 2023, 4:51 a.m. | Last Modified: 14 Aug 2023, 4:51 a.m.
Panel Version: 0.269
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.
Created: 17 Apr 2020, 7:42 a.m. | Last Modified: 17 Apr 2020, 7:42 a.m.
Panel Version: 0.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 17 Apr 2020, 7:42 a.m.
Last Modified: 17 Apr 2020, 7:42 a.m.
Panel version: 0.269

Details

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

History Filter Activity

14 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

14 Aug 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CCT5 were set to

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cct5 has been classified as Red List (Low Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CCT5 was added gene: CCT5 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HMSN