Adult onset hereditary spastic paraplegia
Gene: CCT5EnsemblGeneIds (GRCh38): ENSG00000150753
EnsemblGeneIds (GRCh37): ENSG00000150753
OMIM: 610150, Gene2Phenotype
CCT5 is in 11 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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)
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)
single family. Bouhouche 2006Created: 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
-
- 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
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: CCT5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CCT5 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CCT5.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CCT5.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5
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