1. Panels
  2. Intellectual disability
  3. CCT7
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: CCT7

Red List (low evidence)
CCT7 (chaperonin containing TCP1 subunit 7)
EnsemblGeneIds (GRCh38): ENSG00000135624
EnsemblGeneIds (GRCh37): ENSG00000135624
OMIM: 605140, Gene2Phenotype
CCT7 is in 2 panels

1 review

Ida Ertmanska (Genomics England Curator)

Red List (low evidence)

PMID: 39480921 Kraft et al., 2024
Report of 1 individual (5yo male) with a de novo heterozygous CCT7 variant: c.1135G>A, p.(Glu379Lys), presenting with DD/ID, cerebral/pyramidal signs, and MRI abnormalities:Inferior vermis hypoplasia, corpus callosum hypoplasia.

CCT7 is not yet associated with a disease entity in OMIM (accessed 20th Feb 2026).
Sources: Literature
Created: 20 Feb 2026, 12:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CCT7-related neurodevelopmental disorder with brain abnormalities

Publications

Created: 20 Feb 2026, 12:24 p.m.

Panel version: 9.272

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • CCT7-related neurodevelopmental disorder with brain abnormalities
OMIM
605140
Clinvar variants
Variants in CCT7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: CCT7 was added gene: CCT7 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CCT7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT7 were set to 39480921 Phenotypes for gene: CCT7 were set to CCT7-related neurodevelopmental disorder with brain abnormalities Review for gene: CCT7 was set to RED