Congenital disorders of glycosylation
Gene: CCDC115

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

4 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC115 is VMA22.
Created: 12 Mar 2025, 2:33 p.m. | Last Modified: 12 Mar 2025, 2:33 p.m.

Panel Version: 6.11

Created: 12 Mar 2025, 2:33 p.m.
Last Modified: 12 Mar 2025, 2:33 p.m.
Panel version: 6.11

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q96NT0-1
Created: 9 Jan 2020, 11:09 a.m. | Last Modified: 9 Jan 2020, 11:09 a.m.

Panel Version: 2.0

Created: 9 Jan 2020, 11:09 a.m.
Last Modified: 9 Jan 2020, 11:09 a.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/Q96NT0-1#Disease
Created: 8 Apr 2021, 9:53 a.m. | Last Modified: 8 Apr 2021, 9:53 a.m.

Panel Version: 2.66

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 2 variants reported in 4 families.
Created: 19 Dec 2016, 2:17 p.m.

Created: 19 Dec 2016, 2:17 p.m.

Panel version: 2.66

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

multiple glycan processing pathways affected
Created: 14 Dec 2016, 2:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

26833332

Created: 14 Dec 2016, 2:34 p.m.

Panel version: 0.19

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

Congenital disorder of glycosylation, type IIo 616828

Tags

new-gene-name

OMIM

613734

Clinvar variants

Variants in CCDC115

Penetrance

Complete

Publications

26833332

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.

19 Dec 2016, Gel status: 4