TTC21B

tetratricopeptide repeat domain 21B
OMIM: 612014
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
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
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 12, 613820, Asphyxiating Thoracic Dystrophy, SRTD4
R-numbers: R202
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819, Nephronopthisis 12 MIM 613820
R-numbers: R257
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 12 613820, Ciliopathy genes associated with cystic kidney disease