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Intellectual disability

Gene: CCT6A

Amber List (moderate evidence)
CCT6A (chaperonin containing TCP1 subunit 6A)
EnsemblGeneIds (GRCh38): ENSG00000146731
EnsemblGeneIds (GRCh37): ENSG00000146731
OMIM: 104613, Gene2Phenotype
CCT6A is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: This gene can be promoted to Green at the next GMS panel update. Phenotype is quite variable and unspecific - DD/ID is the most common feature observed among affected individuals so worth adding to this panel to enable capture of variants in this gene.
Created: 23 Sep 2025, 11:17 a.m. | Last Modified: 23 Sep 2025, 11:17 a.m.
Panel Version: 9.99
PMID: 39480921 (2024) - 5 unrelated individuals with variants in the CCT6A gene, including 4 de novo (4 LoF, 2 missense), presenting with neurodevelopmental disorders. Main clinical features include DD/ID (4/5), pyramidal/cerebellar signs (3/4), variable brain abnormalities (3/5), microcephaly (2/5 - severe only in one) seizures (2/4), visual impairment (2/5).
Sources: Literature
Created: 23 Sep 2025, 11:13 a.m.

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

Phenotypes
Neurodevelopmental disorder, MONDO:0700092

Publications

Created: 23 Sep 2025, 11:13 a.m.

Panel version: 9.98

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
Q3_25_promote_green gene-checked
OMIM
104613
Clinvar variants
Variants in CCT6A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: CCT6A.

23 Sep 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cct6a has been classified as Amber List (Moderate Evidence).

23 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: CCT6A was added gene: CCT6A was added to Intellectual disability. Sources: Literature Q3_25_promote_green tags were added to gene: CCT6A. Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCT6A were set to 39480921 Phenotypes for gene: CCT6A were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: CCT6A was set to GREEN