Non-CF bronchiectasis
Gene: CCDC39
CCDC39 (coiled-coil domain containing 39)
EnsemblGeneIds (GRCh38): ENSG00000145075
EnsemblGeneIds (GRCh37): ENSG00000145075
OMIM: 613798, Gene2Phenotype
CCDC39 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000145075
EnsemblGeneIds (GRCh37): ENSG00000145075
OMIM: 613798, Gene2Phenotype
CCDC39 is in 12 panels
1 review
Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)
a PCD associated gene- important to exclude in suspected "idiopathic bronchiectasis"Created: 17 Oct 2015, 6:59 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Bronchiectasis
- OMIM
- 613798
- Clinvar variants
- Variants in CCDC39
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
20 May 2020, Gel status: 1
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: ccdc39 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: ccdc39 has been classified as Green List (High Evidence).
8 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC39 was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory