Renal ciliopathies

Gene: CEP164

Green List (high evidence)

CEP164 (centrosomal protein 164)
EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 17 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Unexplained kidney failure in young people version 1.0 gene panel, and Cystic kidney disease gene panel version 1.2, and more than 3 family reports.
Created: 12 Dec 2016, 12:55 p.m.

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: CEP164 was added gene: CEP164 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP164 were set to ciliopathies; Nephronophthisis 15; Senior-Loken syndrome; Nephronophthisis 15, 614845