1. Genes and Genomic Entities
  2. CCT6A

CCT6A

chaperonin containing TCP1 subunit 6A
OMIM: 104613, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CCT6A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • CCT6A-related neurodevelopmental disorder with or without brain abnormalities
Tags
  • gene-checked
Green CCT6A in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CCT6A-related neurodevelopmental disorder with or without brain abnormalities
    Tags
    • de novo
    • gene-checked
    Amber CCT6A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q3_25_promote_green
    • gene-checked