1. Genes and Genomic Entities
  2. CNOT1

CNOT1

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

5 panels

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


Level 2: Endocrinology
Version 5.17
Latest signed off version: v5.0 (7 Aug 2024)

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 2: Neurology
Version 5.7
Latest signed off version: v5.1 (30 Oct 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


    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 Green
    • DD-Gene2Phenotype
    Phenotypes
    • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
    Green CNOT1 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
    • 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 2: Developmental disorders
    Version 9.279
    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 Green
    • Literature
    Phenotypes
    • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
    • global developmental delay