Genomics England

CEP83

centrosomal protein 83

Panel	Mode of inheritance	Details
Filter panels7 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 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEPHRONOPHTHISIS 18
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 18, OMIM:615862
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
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 3.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 18 615862
Green in Tubulointerstitial kidney disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R202 Signed-off version 3.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronopthisis 18 MIM 615862