DDG2P
Gene: CCT4

CCT4 (chaperonin containing TCP1 subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000115484
EnsemblGeneIds (GRCh37): ENSG00000115484
OMIM: 605142, Gene2Phenotype
CCT4 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease CCT4-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 (PMID: 39480921).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

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

Phenotypes
CCT4-related neurodevelopmental disorder with brain abnormalities

Publications

39480921

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

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

CCT4-related neurodevelopmental disorder with brain abnormalities

OMIM

605142

Clinvar variants

Variants in CCT4

Penetrance

None

Publications

39480921

Panels with this gene

DDG2P

History Filter Activity

21 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CCT4 was added gene: CCT4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CCT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCT4 were set to 39480921 Phenotypes for gene: CCT4 were set to CCT4-related neurodevelopmental disorder with brain abnormalities

DDG2P Gene: CCT4