Renal and urinary tract disorders
Gene: CEP164EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 15 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least five variants reportedCreated: 4 Aug 2016, 10:32 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: 4 families reported. Spectrum including syndromic and non-syndromic forms of renal and retinal disease.Created: 10 May 2016, 10:14 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 11:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Nephronophthisis 15 614845
- OMIM
- 614848
- Clinvar variants
- Variants in CEP164
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Limb disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Unexplained kidney failure in young people
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: CEP164 were changed from Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 15 to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 15 614845
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Nephronophthisis 15 for gene: CEP164
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CEP164 was added gene: CEP164 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP164 were set to Ciliopathy genes associated with cystic kidney disease