1. Genes and Genomic Entities
  2. CNOT3

CNOT3

CCR4-NOT transcription complex subunit 3
OMIM: 604910, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber CNOT3 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.15
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moyamoya disease MONDO:0016820
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672
  • intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864
Tags
  • to_be_confirmed_NHSE
Amber CNOT3 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Green CNOT3 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CNOT3 syndrome
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Green CNOT3 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CNOT3 syndrome
    Green CNOT3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • CNOT3 syndrome
    • intellectual disability, global developmental delay
    • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
    Green CNOT3 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • CNOT3 syndrome