CNOT1

CCR4-NOT transcription complex subunit 1
OMIM: 604917, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber CNOT1 in Holoprosencephaly

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.23
Latest signed off version: v2.3 (27 Feb 2020)

Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
    • pancreatic agenesis and holoprosencephaly syndrome
    Tags
    • watchlist

    Green CNOT1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Holoprosencephaly 12, with or without pancreatic agenesis, 618500

    Amber CNOT1 in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • pancreatic agenesis and holoprosencephaly syndrome
    • HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500

    Green CNOT1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
    • global developmental delay

    Green CNOT1 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Holoprosencephaly 12, with or without pancreatic agenesis, 618500