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  3. CCDC115
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DDG2P

Gene: CCDC115

Green List (high evidence)
CCDC115 (coiled-coil domain containing 115)
EnsemblGeneIds (GRCh38): ENSG00000136710
EnsemblGeneIds (GRCh37): ENSG00000136710
OMIM: 613734, Gene2Phenotype
CCDC115 is in 7 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC115 is VMA22.
Created: 12 Mar 2025, 2:39 p.m. | Last Modified: 12 Mar 2025, 2:39 p.m.
Panel Version: 5.48
Created: 12 Mar 2025, 2:39 p.m.
Last Modified: 12 Mar 2025, 2:39 p.m.
Panel version: 5.48

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Disorder of Golgi homeostasis is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:26833332).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Disorder of Golgi homeostasis

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Disorder of Golgi homeostasis
Tags
new-gene-name
OMIM
613734
Clinvar variants
Variants in CCDC115
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: CCDC115.

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CCDC115 was added gene: CCDC115 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC115 were set to 26833332 Phenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis