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  2. Renal ciliopathies
  3. CEP83
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Renal ciliopathies

Gene: CEP83

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

mutations identified in 8 patients from 7 families . Recognised on G2P and offered on GOS ciliopathy panel
Created: 19 Jan 2017, 4:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 18 615862

Publications

Created: 19 Jan 2017, 4:19 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.405

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 18 615862
OMIM
615847
Clinvar variants
Variants in CEP83
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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 ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Orphanet 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 615862