Genomics England
GMS Panels
Panels
Genes and Entities

TTC21B

tetratricopeptide repeat domain 21B
OMIM: 612014
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
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
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.13
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 Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, HP:0000556
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.1
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 12, 613820, Asphyxiating Thoracic Dystrophy, SRTD4
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 12, OMIM:613820