Renal ciliopathies

Gene: CEP83

Green List (high evidence)

CEP83 (centrosomal protein 83)
EnsemblGeneIds (GRCh38): ENSG00000173588
EnsemblGeneIds (GRCh37): ENSG00000173588
OMIM: 615847, Gene2Phenotype
CEP83 is in 12 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

Nephronophthisis 18 615862


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