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Mendeliome

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as MODERATE by ClinGen Congenital Disorders of Glycosylation on 04/09/2024 however has been reported in 10 unrelated probands with a range of phenotypes - https://search.clinicalgenome.org/CCID:008374
Created: 7 Nov 2024, 4:50 a.m. | Last Modified: 7 Nov 2024, 4:50 a.m.
Panel Version: 1.2090

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CCDC115-CDG MONDO:0014789

Publications

  • https://search.clinicalgenome.org/CCID:008374

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.

At least 4 unrelated families reported.
Created: 30 Dec 2021, 9:48 a.m. | Last Modified: 30 Dec 2021, 9:48 a.m.
Panel Version: 0.10423

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
  • Victorian Clinical Genetics Services
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

30 Dec 2021, 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).

30 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCDC115 were set to

30 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCDC115 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC115 was added gene: CCDC115 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC115 was set to Unknown