Genomics England

TTC21B

tetratricopeptide repeat domain 21B

OMIM: 612014

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease Signed-off version 4.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ciliopathy genes associated with cystic kidney disease
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 12, 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, Jeune syndrome, Short-rib thoracic dysplasia 4 with or without polydactyly, 613819, Nephronophthisis
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 12, 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, Jeune syndrome, Short-rib thoracic dysplasia 4 with or without polydactyly, 613819, Nephronophthisis
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 12, 613820, Asphyxiating Thoracic Dystrophy, SRTD4
Green in Tubulointerstitial kidney disease R-numbers: R202 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronopthisis 12, OMIM:613820
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 12 613820, Ciliopathy genes associated with cystic kidney disease