Laterality disorders and isomerism
Gene: CCDC39EnsemblGeneIds (GRCh38): ENSG00000145075
EnsemblGeneIds (GRCh37): ENSG00000145075
OMIM: 613798, Gene2Phenotype
CCDC39 is in 12 panels
2 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton diagnostic panel. Known cause of PCD iwth isomerism/heterotaxy being a feature. Multiple cases reported at CGGL.Created: 19 Nov 2019, 4:23 p.m. | Last Modified: 19 Nov 2019, 4:23 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 613807 Ciliary dyskinesia, primary, 14
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CCDC39; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 14, 613807
- OMIM
- 613798
- Clinvar variants
- Variants in CCDC39
- Penetrance
- None
- Publications
- 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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, 613807
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CCDC39 were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: CCDC39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CCDC39. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CCDC39 was added gene: CCDC39 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC39 was set to