Pain syndromes
Gene: CCT5EnsemblGeneIds (GRCh38): ENSG00000150753
EnsemblGeneIds (GRCh37): ENSG00000150753
OMIM: 610150, Gene2Phenotype
CCT5 is in 11 panels
2 reviews
Arianna Tucci (Genomics England Curator)
Not enough evidence to mark it greenCreated: 18 Jul 2017, 8:37 a.m.
Louise Daugherty (Genomics England Curator)
PMID:25124038 (2014) two mutations to date have been identified in the subunits of the eukaryotic cytosolic chaperonin TRiC, a protein machine responsible for folding actin and tubulin in the cell. C450Y CCT4 was identified in a stock of Sprague-Dawley rats (PMID:12874111), whereas H147R CCT5 was found in a human Moroccan family (PMID:16399879)Created: 9 Jul 2017, 6:50 p.m.
1 case PMID: 16399879 (2006) 1 family 4 affectedsCreated: 9 Jul 2017, 6:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory, with spastic paraplegia; 256840; HSAN with spastic paraplegia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Review
- Literaure
- Phenotypes
-
- Neuropathy, hereditary sensory, with spastic paraplegia, 256840
- HSAN with spastic paraplegia
- OMIM
- 610150
- Clinvar variants
- Variants in CCT5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Pain syndromes
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia
Set publications
Louise Daugherty (Genomics England Curator)Publications for CCT5 were set to 16399879; 25124038; 28623285;12874111
Set publications
Louise Daugherty (Genomics England Curator)Publications for CCT5 were set to 16399879;25124038; 28623285
Added New Source
Louise Daugherty (Genomics England Curator)CCT5 was added to Pain syndromespanel. Sources: Literaure,Review
Created
Louise Daugherty (Genomics England Curator)CCT5 was created by LouiseD