Genomics England
GMS Panels
Panels
Genes and Entities

TTC12

tetratricopeptide repeat domain 12
OMIM: 610732
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TTC12-related Primary Ciliary Dyskinesia
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 45, OMIM:618801, MONDO:0032924