Hereditary spastic paraplegia
Gene: CCT5EnsemblGeneIds (GRCh38): ENSG00000150753
EnsemblGeneIds (GRCh37): ENSG00000150753
OMIM: 610150, Gene2Phenotype
CCT5 is in 11 panels
1 review
emma baple (Genomics England Curator)
Only a single consanguinous Moroccan family reported, further evidence required.Created: 7 Feb 2016, 7:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neuropathy, hereditary sensory, with spastic paraplegia
- Sensory Neuropathy with Spastic Paraplegia
- OMIM
- 610150
- Clinvar variants
- Variants in CCT5
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Pain syndromes
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CCT5 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)CCT5 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services