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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

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect.
Created: 28 Nov 2024, 1:20 a.m. | Last Modified: 28 Nov 2024, 1:20 a.m.
Panel Version: 1.592

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

Publications

Created: 28 Nov 2024, 1:20 a.m.
Last Modified: 28 Nov 2024, 1:20 a.m.
Panel version: 1.592

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIo, MIM#616828
OMIM
613734
Clinvar variants
Variants in CCDC115
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: CCDC115 were changed from Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive to Congenital disorder of glycosylation, type IIo, MIM#616828

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CCDC115 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC115 was added gene: CCDC115 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive