Primary ciliary disorders
Gene: CCDC114Added new-gene-name tag, new approved HGNC gene symbol for CCDC114 is ODAD1Created: 24 Feb 2021, 3:08 p.m. | Last Modified: 24 Feb 2021, 3:08 p.m.
Panel Version: 1.29
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 20, 615067
Variants in this GENE are reported as part of current diagnostic practice
Sufficient cases for causation of PCD. One large multiply consanguinous family had two individuals with complex cardiac malformations. Other reported cases did not have situs anomalies.Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; situs inversus
Publications
Comment on list classification: 2 expert reviewers suggesting green list and current diagnosticCreated: 10 May 2016, 8:55 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 20
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: CCDC114.
Mode of inheritance for CCDC114 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CCDC114 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
CCDC114 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN