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DDG2P

Gene: CNOT2

Green List (high evidence)
CNOT2 (CCR4-NOT transcription complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000111596
EnsemblGeneIds (GRCh37): ENSG00000111596
OMIM: 604909, Gene2Phenotype
CNOT2 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT2-related neurodevelopmental disorder with hypotonia are strong, monoallelic_autosomal and loss of function (PMIDs: 21299754, 31145527, 31512373, 36224108). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03500.
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 CNOT2-related neurodevelopmental disorder with hypotonia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 21299754;31512373;36224108;31145527).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
OMIM:618608.0; MONDO:0032832; CNOT2-related neurodevelopmental disorder with hypotonia

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CNOT2-related neurodevelopmental disorder with hypotonia
Tags
de novo
OMIM
604909
Clinvar variants
Variants in CNOT2
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: CNOT2 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: CNOT2.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CNOT2 was added gene: CNOT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT2 were set to 36224108; 31512373; 21299754; 31145527 Phenotypes for gene: CNOT2 were set to CNOT2-related neurodevelopmental disorder with hypotonia Mode of pathogenicity for gene: CNOT2 was set to Other