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  2. Malformations of cortical development
  3. CCT8
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Malformations of cortical development

Gene: CCT8

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

1 review

Ida Ertmanska (Genomics England Curator)

I don't know

PMID: 39480921 Kraft et al., 2024
Report of 2 individuals (20yo male and 79yo male) with heterozygous CCT7 variants: c.925_929del p.(Asn309Hisfs*16) - de novo & c.1166_1169delAAAG, p.(Glu389Glyfs*3) - inheritance not known. Patients presented with DD/ID (2/2), cerebral/pyramidal signs (1), seizures (2/2) and MRI abnormalities: Polymicrogyria (2/2).

CCT8 is not yet associated with a disease entity in OMIM (accessed 20th Feb 2026).
Sources: Literature
Created: 20 Feb 2026, 12:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CCT8-related neurodevelopmental disorder with brain abnormalities

Publications

Created: 20 Feb 2026, 12:28 p.m.

Copied from panel: Intellectual disability v9.276

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CCT8-related neurodevelopmental disorder with brain abnormalities
Clinvar variants
Variants in CCT8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2026, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: CCT8 was added gene: CCT8 was added to Malformations of cortical development. Sources: Literature,Expert Review Amber Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT8 were set to 39480921 Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities