Cystic kidney disease
Gene: CEP83
CEP83 (centrosomal protein 83)
EnsemblGeneIds (GRCh38): ENSG00000173588
EnsemblGeneIds (GRCh37): ENSG00000173588
OMIM: 615847, Gene2Phenotype
CEP83 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000173588
EnsemblGeneIds (GRCh37): ENSG00000173588
OMIM: 615847, Gene2Phenotype
CEP83 is in 10 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Sufficient casesCreated: 28 Mar 2019, 12:40 p.m.
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
PMID: 24882706 reports ten variants found in biallelic form in seven families. All but one of the probands had nephronophthisis progressing to end stage renal failure; some of the affected individuals had additional features including intellectual disability and hydrocephalus.
Sources: Expert listCreated: 28 Mar 2019, 7:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS 18
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- NEPHRONOPHTHISIS 18
- OMIM
- 615847
- Clinvar variants
- Variants in CEP83
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Mar 2019, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cep83 has been classified as Green List (High Evidence).
28 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)gene: CEP83 was added gene: CEP83 was added to Cystic kidney disease. Sources: Expert list Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706 Phenotypes for gene: CEP83 were set to NEPHRONOPHTHISIS 18 Review for gene: CEP83 was set to GREEN