Primary ciliary disorders
Gene: CCDC103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 17, 614679
Variants in this GENE are reported as part of current diagnostic practice
Sufficient cases for causation of PCD +/- situs anomalies. No congenital cardiac involvement seen in reported cases.Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; situs inversus
Publications
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 17
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
CCDC103 was added to Primary ciliary disorderspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene CCDC103 was changed to BIALLELIC, autosomal or pseudoautosomal
CCDC103 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene CCDC103 was changed to BIALLELIC, autosomal or pseudoautosomal
CCDC103 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
CCDC103 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN