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  2. Ophthalmological ciliopathies
  3. CEP164
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Ophthalmological ciliopathies

Gene: CEP164

Green List (high evidence)
CEP164 (centrosomal protein 164)
EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 15 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.
Created: 12 Dec 2016, 12:55 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.365

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
  • Nephronophthisis 15
  • Senior-Loken syndrome
  • Nephronophthisis 15, 614845
OMIM
614848
Clinvar variants
Variants in CEP164
Penetrance
None
Panels with this gene

History Filter Activity

8 Jul 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: CEP164 was added gene: CEP164 was added to Ophthalmological 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