Ataxia and cerebellar anomalies - narrow panel
Gene: CCT5
CCT5 (chaperonin containing TCP1 subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000150753
EnsemblGeneIds (GRCh37): ENSG00000150753
OMIM: 610150, Gene2Phenotype
CCT5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000150753
EnsemblGeneIds (GRCh37): ENSG00000150753
OMIM: 610150, Gene2Phenotype
CCT5 is in 11 panels
1 review
Ida Ertmanska (Genomics England Curator)
PMID: 39480921 Kraft et al., 2024
1 individual (5yo male) reported with a de novo heterozygous CCT5 variant c.527A>G, p.(Lys176Arg). Presented with severe ID/DD, pyramidal/cerebellar signs, visual impairment, and microcephaly (−7.86 z), polymicrogyria, and pontocerebellar hypoplasia.
PMID: 16333315 Ahmed Bouhouche et al., 2006 - listed in OMIM
By genomewide analysis of a consanguineous Moroccan family with sensory neuropathy and spastic paraplegia, Bouhouche et al. (2006) identified a candidate disease locus within a 25-cM region on chromosome 5p15.31-p14.1 between markers D5S2054 and D5S648 - CCT5 was one of 3 candidate genes in the region.
CCT5 is putatively associated with ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840 (OMIM accessed 20th Feb 2026).
Sources: LiteratureCreated: 20 Feb 2026, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Literature
- Phenotypes
-
- ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840
- OMIM
- 610150
- Clinvar variants
- Variants in CCT5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Pain syndromes
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
20 Feb 2026, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ida Ertmanska (Genomics England Curator)gene: CCT5 was added gene: CCT5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: CCT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT5 were set to 16333315; 39480921 Phenotypes for gene: CCT5 were set to ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840