Primary ciliary disorders
Gene: CCDC39
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
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
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:35 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 14
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
CCDC39 was added to Primary ciliary disorderspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene CCDC39 was changed to BIALLELIC, autosomal or pseudoautosomal
CCDC39 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene CCDC39 was changed to BIALLELIC, autosomal or pseudoautosomal
CCDC39 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene CCDC39 was changed to BIALLELIC, autosomal or pseudoautosomal
CCDC39 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
CCDC39 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory