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Intellectual disability syndromic and non-syndromic

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

previously known as CCT6

5x individuals including 4x de novo
3x PTCS + 1x +5C>G + 1x missense

4/5 DD/ID
2/5 visual impairment
2/5 seizures
Sources: Literature
Created: 8 Dec 2024, 10:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, CCT6A-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, CCT6A-related
OMIM
104613
Clinvar variants
Variants in CCT6A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cct6a has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cct6a has been classified as Red List (Low Evidence).

8 Dec 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CCT6A was added gene: CCT6A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT6A were set to 39480921 Phenotypes for gene: CCT6A were set to neurodevelopmental disorder MONDO:0700092, CCT6A-related Penetrance for gene: CCT6A were set to Complete Review for gene: CCT6A was set to GREEN gene: CCT6A was marked as current diagnostic