Genomics England
GMS Panels
Panels
Genes and Entities

CCDC40

coiled-coil domain containing 40
OMIM: 613799
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
CILIARY DYSKINESIA, PRIMARY, 15 613808
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CILIARY DYSKINESIA, PRIMARY, 15
Green
in Laterality disorders and isomerism
R-numbers: R139
Signed-off version 3.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 15, 613808
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 15, 613808, Primary Ciliary Dyskinesia, Bronchiectasis