Primary ciliary disorders
Gene: CCDC39EnsemblGeneIds (GRCh38): ENSG00000145075
EnsemblGeneIds (GRCh37): ENSG00000145075
OMIM: 613798, Gene2Phenotype
CCDC39 is in 12 panels
4 reviews
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 14, 613807
Variants in this GENE are reported as part of current diagnostic practice
Helen Brittain (Genomics England Curator)
3/19 families in listed PMID had heterotaxy. Therefore also considered appropriate for inclusion under heterotaxy phenotype.Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; situs inversus
Publications
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:35 a.m.
Hannah Mitchison (UCL and GOSH)
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 14
Publications
- PMID:23255504
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Primary Ciliary Dyskinesia
- Ciliary dyskinesia, primary, 14, 613807
- 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
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
History Filter Activity
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC39 was added to Primary ciliary disorderspanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CCDC39 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC39 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CCDC39 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC39 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CCDC39 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC39 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC39 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory