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DDG2P

Gene: CCDC22

Green List (high evidence)
CCDC22 (coiled-coil domain containing 22)
EnsemblGeneIds (GRCh38): ENSG00000101997
EnsemblGeneIds (GRCh37): ENSG00000101997
OMIM: 300859, Gene2Phenotype
CCDC22 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CCDC22-related syndromic intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 24916641, 36073196). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01275.
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 SYNDROMIC X-LINKED INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
OMIM:300963.0; SYNDROMIC X-LINKED INTELLECTUAL DISABILITY; CCDC22-related syndromic intellectual disability; MONDO:0010499

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

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
OMIM
300859
Clinvar variants
Variants in CCDC22
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CCDC22 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CCDC22. Mode of pathogenicity for gene CCDC22 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CCDC22 was added gene: CCDC22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY Mode of pathogenicity for gene: CCDC22 was set to Other - please provide details in the comments