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Intellectual disability syndromic and non-syndromic

Gene: CCT3

Green List (high evidence)

CCT3 (chaperonin containing TCP1 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000163468
EnsemblGeneIds (GRCh37): ENSG00000163468
OMIM: 600114, Gene2Phenotype
CCT3 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

4x de novo - 3x PTCs and 1x missense

overlapping phenotypes:
4/4 ID/DD
3/4 visual impairment
2/4 seizures
4/4 Hypomyelination of white matter
Sources: Literature
Created: 8 Dec 2024, 9:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, CCT3-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, CCT3-related
OMIM
600114
Clinvar variants
Variants in CCT3
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: cct3 has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cct3 has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cct3 has been classified as Green List (High 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: CCT3 was added gene: CCT3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT3 were set to 39480921 Phenotypes for gene: CCT3 were set to neurodevelopmental disorder MONDO:0700092, CCT3-related Penetrance for gene: CCT3 were set to Complete Review for gene: CCT3 was set to GREEN gene: CCT3 was marked as current diagnostic