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  3. CCT6A
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Fetal anomalies

Gene: CCT6A

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
New DDG2P gene. 5 individuals with variants of concern (de novo and/or LoF) and neurodevelopmental disorders (39480921). 2 normal brain imaging, 1 cerebellar atrophy, 1 hydrocephalus and reduced brain volume, 1 pituitary cyst. Limited evidence for prenatally detectable brain abnormalities.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

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

Phenotypes
CCT6A-related neurodevelopmental disorder with or without brain abnormalities

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • CCT6A-related neurodevelopmental disorder with or without brain abnormalities
Tags
gene-checked
OMIM
104613
Clinvar variants
Variants in CCT6A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2025, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

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

5 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: CCT6A was added gene: CCT6A was added to Fetal anomalies. Sources: Expert Review Red 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 CCT6A-related neurodevelopmental disorder with or without brain abnormalities