Liver Failure_Paediatric
Gene: CCDC115EnsemblGeneIds (GRCh38): ENSG00000136710
EnsemblGeneIds (GRCh37): ENSG00000136710
OMIM: 613734, Gene2Phenotype
CCDC115 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert listCreated: 5 Nov 2020, 9:19 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
- Expert list
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc115 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc115 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CCDC115 was added gene: CCDC115 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC115 were set to 26833332; 29759592 Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, MIM# 616828 Review for gene: CCDC115 was set to GREEN