Renal and urinary tract disorders
Gene: CEP83

CEP83 (centrosomal protein 83)
EnsemblGeneIds (GRCh38): ENSG00000173588
EnsemblGeneIds (GRCh37): ENSG00000173588
OMIM: 615847, Gene2Phenotype
CEP83 is in 10 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Sufficient cases.
Created: 28 Mar 2019, 2:21 p.m.

Comment from Genomics England clinical team: 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.
Created: 28 Mar 2019, 2:21 p.m.

Adding CEP83 to the panel as it has been added to the source Cystic kidney disease panel.
Sources: Expert list
Created: 28 Mar 2019, 2:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NEPHRONOPHTHISIS 18

Publications

24882706

Created: 28 Mar 2019, 2:20 p.m.

Panel version: 1.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

NEPHRONOPHTHISIS 18

OMIM

615847

Clinvar variants

Variants in CEP83

Penetrance

None

Publications

24882706

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

Eleanor Williams (Genomics England Curator)

gene: CEP83 was added gene: CEP83 was added to Renal and urinary tract disorders. 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

Renal and urinary tract disorders Gene: CEP83