DDG2P
Gene: CCT8

CCT8 (chaperonin containing TCP1 subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000156261
EnsemblGeneIds (GRCh37): ENSG00000156261
CCT8 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease CCT8-related neurodevelopmental disorder with brain abnormalities is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level.
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 9:30 p.m.

Panel Version: 5.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CCT8-related neurodevelopmental disorder with brain abnormalities

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 9:30 p.m.
Panel version: 5.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

CCT8-related neurodevelopmental disorder with brain abnormalities

Clinvar variants

Variants in CCT8

Penetrance

None

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CCT8 was added gene: CCT8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities

DDG2P Gene: CCT8