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DDG2P

Gene: CNOT1

Green List (high evidence)
CNOT1 (CCR4-NOT transcription complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000125107
EnsemblGeneIds (GRCh37): ENSG00000125107
OMIM: 604917, Gene2Phenotype
CNOT1 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT1-related holoprosencephaly with or without pancreatic agenesis are strong, monoallelic_autosomal and undetermined (PMIDs: 31006510, 31006513). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02776. The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT1-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMID:32553196). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03009.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease CNOT1-related neurodevelopmental disorder is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMID:32553196). The DDG2P confidence category for the disease HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS, OMIM:618500 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 31006510;31006513).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:619033.0; MONDO:0032787; CNOT1-related neurodevelopmental disorder; OMIM:618500.0; MONDO:0033618; CNOT1-related holoprosencephaly with or without pancreatic agenesis; HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS, OMIM:618500

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P for CNOT1, September 2019: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS. Disease confidence rating in DDG2P: probable; DDG2P mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Created: 3 Oct 2019, 10:45 a.m. | Last Modified: 3 Oct 2019, 10:45 a.m.
Panel Version: 1.110
New gene:disorder association added to DDG2P on 25/04/2019: pancreatic agenesis and holoprosencephaly syndrome. Disease confidence rating in DDG2P: probable. DDG2P mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Created: 9 May 2019, 2:35 p.m.
Created: 9 May 2019, 2:35 p.m.

Panel version: 1.110

Details

Mode of Inheritance
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
OMIM
604917
Clinvar variants
Variants in CNOT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CNOT1 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CNOT1. Mode of pathogenicity for gene CNOT1 was changed from Other - please provide details in the comments to Other Publications for gene: CNOT1 were updated from 31006510; 31006513 to 31006513; 32553196; 31006510 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Oct 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to pancreatic agenesis and holoprosencephaly syndrome; HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500

9 May 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: CNOT1 was added gene: CNOT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT1 were set to 31006510; 31006513 Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments