1. Panels
  2. Likely inborn error of metabolism
  3. CCDC115
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Likely inborn error of metabolism

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

1 review

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC115 is VMA22.
Created: 12 Mar 2025, 2:37 p.m. | Last Modified: 12 Mar 2025, 2:37 p.m.
Panel Version: 7.13
Created: 12 Mar 2025, 2:37 p.m.
Last Modified: 12 Mar 2025, 2:37 p.m.
Panel version: 7.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIo 616828
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.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type IIo 616828 for gene: CCDC115

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CCDC115 was added gene: CCDC115 was added to Inborn errors of metabolism. Sources: Expert Review Green 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 Congenital disorder of glycosylation, type IIo 616828