Hereditary spastic paraplegia

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

1 review

emma baple (Genomics England Curator)

Red List (low evidence)

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

History Filter Activity

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CCT5 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 1

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