1. Panels
  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. CCT2
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CCT2

Red List (low evidence)
CCT2 (chaperonin containing TCP1 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000166226
EnsemblGeneIds (GRCh37): ENSG00000166226
OMIM: 605139, Gene2Phenotype
CCT2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with compound het missense variants, functional data, including animal model.
Sources: NHS GMS
Created: 10 Oct 2020, 6:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber's congenital amaurosis

Publications

Created: 10 Oct 2020, 6:51 a.m.

Panel version: 0.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber's congenital amaurosis
OMIM
605139
Clinvar variants
Variants in CCT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cct2 has been classified as Red List (Low Evidence).

10 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCT2 was added gene: CCT2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: NHS GMS Mode of inheritance for gene: CCT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT2 were set to 27645772; 29450543 Phenotypes for gene: CCT2 were set to Leber's congenital amaurosis Review for gene: CCT2 was set to RED