Congenital Disorders of Glycosylation

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26833332
- 8 affecteds from 5 families. Abnormal N-and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts.
Sources: Literature
Created: 15 Jul 2020, 6:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIo (MIM# 616828)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIo (MIM# 616828)
OMIM
613734
Clinvar variants
Variants in CCDC115
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc115 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc115 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CCDC115 was added gene: CCDC115 was added to Congenital Disorders of Glycosylation. Sources: Literature 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 (MIM# 616828) Penetrance for gene: CCDC115 were set to unknown Review for gene: CCDC115 was set to GREEN