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  2. Tubulointerstitial kidney disease
  3. CEP83
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Tubulointerstitial kidney disease

Gene: CEP83

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

2 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

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, 2:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 28 Mar 2019, 2:14 p.m.

Panel version: 0.11

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:CEP83;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronopthisis 18 MIM 615862

Created: 2 Feb 2019, 12:48 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nephronophthisis 18, OMIM:615862
  • nephronophthisis 18, MONDO:0014374
OMIM
615847
Clinvar variants
Variants in CEP83
Penetrance
None
Panels with this gene

History Filter Activity

9 Apr 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: CEP83 were changed from Nephronopthisis 18 MIM 615862 to Nephronophthisis 18, OMIM:615862; nephronophthisis 18, MONDO:0014374

2 Feb 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: CEP83 was added gene: CEP83 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP83 were set to Nephronopthisis 18 MIM 615862