TCTEX1D2

Tctex1 domain containing 2
OMIM: 617353
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405, Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565, Jeune asphyxiating thoracic dystrophy, JATD
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405, Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565, Jeune asphyxiating thoracic dystrophy, JATD
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405, Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565