1. Panels
  2. Hereditary Spastic Paraplegia - paediatric
  3. CCT5
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - paediatric

Gene: CCT5

Red List (low evidence)
CCT5 (chaperonin containing TCP1 subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000150753
EnsemblGeneIds (GRCh37): ENSG00000150753
OMIM: 610150, Gene2Phenotype
CCT5 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family reported in 2006.
Created: 17 Apr 2020, 7:15 a.m. | Last Modified: 17 Apr 2020, 7:15 a.m.
Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840

Publications

Created: 17 Apr 2020, 7:15 a.m.
Last Modified: 17 Apr 2020, 7:15 a.m.
Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia
  • Sensory Neuropathy with Spastic Paraplegia
OMIM
610150
Clinvar variants
Variants in CCT5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cct5 has been classified as Red List (Low Evidence).

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cct5 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CCT5 was added gene: CCT5 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT5 were set to 16399879 Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia