Familial pulmonary fibrosis
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
2 reviews
Philip Molyneaux (Imperial College)
PCD not fibrosisCreated: 26 Apr 2017, 9:49 a.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Primary ciliary dyskinesia (bronchiectasis) rather than fibrosis -not relevant phenotypeCreated: 8 Feb 2017, 5:50 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Ciliary dyskinesia, primary, 14
- 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
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
27 Apr 2017, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CCDC39 were set to Ciliary dyskinesia, primary, 14
8 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CCDC39 was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC39 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory