Laterality disorders and isomerismGene: CCDC114
Added new-gene-name tag, new approved HGNC gene symbol for CCDC114 is ODAD1
Created: 24 Feb 2021, 3:08 p.m. | Last Modified: 24 Feb 2021, 3:08 p.m.
Panel Version: 1.21
On CGGL Royal Brompton panel. Pathogenic bi-allelic variants detected in several PCD patients with and without situs inversus.
Good literature evidence.
Created: 25 Nov 2019, 11:49 p.m. | Last Modified: 25 Nov 2019, 11:49 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 615067 Ciliary dyskinesia, primary, 20
Variants in this GENE are reported as part of current diagnostic practice
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 or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.
Tag new-gene-name tag was added to gene: CCDC114.
Publications for gene: CCDC114 were set to
Mode of inheritance for gene: CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, 615067
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 Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC114 was set to