DDG2P
Gene: CCT3

CCT3 (chaperonin containing TCP1 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000163468
EnsemblGeneIds (GRCh37): ENSG00000163468
OMIM: 600114, Gene2Phenotype
CCT3 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CCT3-related neurodevelopmental disorder with hypomyelination of white matter, OMIM:621034 is moderate. 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
CCT3-related neurodevelopmental disorder with hypomyelination of white matter, OMIM:621034

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 Green

Phenotypes

CCT3-related neurodevelopmental disorder with hypomyelination of white matter, OMIM:621034

OMIM

600114

Clinvar variants

Variants in CCT3

Penetrance

None

Publications

39480921

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CCT3 was added gene: CCT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCT3 were set to 39480921 Phenotypes for gene: CCT3 were set to CCT3-related neurodevelopmental disorder with hypomyelination of white matter, OMIM:621034

DDG2P Gene: CCT3