Respiratory ciliopathies including non-CF bronchiectasis
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: 1.43
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: CCDC114; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
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 gene CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Source Expert Review Green was added to CCDC114. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC114 was added gene: CCDC114 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CCDC114 was set to