1. Genes and Genomic Entities
  2. CNOT1

CNOT1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green CNOT1 in Neonatal diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert review
Phenotypes
  • Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500
  • holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787
Green CNOT1 in Holoprosencephaly - NOT chromosomal

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.9
Latest signed off version: v4.4 (1 May 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500
    • holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787
    Green CNOT1 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
    Green CNOT1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • 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 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.184

    		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