1. Panels
  2. DDG2P
  3. CNOT9
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: CNOT9

Green List (high evidence)
CNOT9 (CCR4-NOT transcription complex subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000144580
EnsemblGeneIds (GRCh37): ENSG00000144580
OMIM: 612054, Gene2Phenotype
CNOT9 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 CNOT9-related developmental disorder with seizures are moderate, monoallelic_autosomal and loss of function (PMIDs: 30309886, 37092538). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03501.
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 CNOT9-related developmental disorder with seizures is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37092538).
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
CNOT9-related developmental disorder with seizures

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
  • CNOT9-related developmental disorder with seizures
Tags
de novo gene-checked
OMIM
612054
Clinvar variants
Variants in CNOT9
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: CNOT9 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: CNOT9.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: CNOT9.

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: CNOT9 was added gene: CNOT9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNOT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT9 were set to 37092538 Phenotypes for gene: CNOT9 were set to CNOT9-related developmental disorder with seizures Mode of pathogenicity for gene: CNOT9 was set to Other