1. Panels
  2. Intellectual disability
  3. CCT6A
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: CCT6A

Green List (high 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)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
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: 9.299

Details

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

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: CCT6A.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to CCT6A. Source Expert Review Green was added to CCT6A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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