Non-CF bronchiectasis
Gene: CCDC40
CCDC40 (coiled-coil domain containing 40)
EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 12 panels
1 review
Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)
should be considered if PCD suspectedCreated: 31 Mar 2016, 6:30 p.m.
Mode of inheritance
Unknown
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Bronchiectasis
- OMIM
- 613799
- Clinvar variants
- Variants in CCDC40
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Intellectual disability
- Ductal plate malformation
- Familial pulmonary fibrosis
- Skeletal dysplasia
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
20 May 2020, Gel status: 1
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: ccdc40 has been classified as Red List (Low Evidence).
20 May 2020, Gel status: 3
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: ccdc40 has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()CCDC40 was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory