Genomics England
GMS Panels
Panels
Genes and Entities

CCDC114

coiled-coil domain containing 114
OMIM: 615038
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY CILIARY DYSKINESIA
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY CILIARY DYSKINESIA
Green
in Laterality disorders and isomerism
R-numbers: R139
Signed-off version 3.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 20, 615067
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 20, 615067