Hereditary spastic paraplegia - adult onset

Gene: CCT5

Red List (low evidence)

CCT5 (chaperonin containing TCP1 subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000150753
EnsemblGeneIds (GRCh37): ENSG00000150753
OMIM: 610150, Gene2Phenotype
CCT5 is in 9 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Childhood onset. Single family. Single mutations reported. Further evidence published suggesting benign.
Created: 10 May 2019, 12:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

single family. Bouhouche 2006
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia

Details

Mode of Inheritance
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
OMIM
610150
Clinvar variants
Variants in CCT5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CCT5 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CCT5 were set to

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CCT5.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CCT5.

27 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CCT5 was added gene: CCT5 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: CCT5 was set to