Genomics England
GMS Panels
Panels
Genes and Entities

CEP164

centrosomal protein 164
OMIM: 614848
PanelMode of inheritanceDetails
7 panels
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 15 614845
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ciliopathies, Nephronophthisis 15, Senior-Loken syndrome, Nephronophthisis 15, 614845
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ciliopathies, Nephronophthisis 15, Senior-Loken syndrome, Nephronophthisis 15, 614845
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 15, OMIM:614845, Bronchiectasis, HP:0002110
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic Retinal Degeneration Conditions
Green
in Tubulointerstitial kidney disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R202
Signed-off version 3.32
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 15, OMIM:614845, nephronophthisis 15, MONDO:0013917