Respiratory ciliopathies including non-CF bronchiectasis
Gene: CCDC151Added new-gene-name tag, new approved HGNC gene symbol for CCDC151 is ODAD3Created: 24 Feb 2021, 5:07 p.m. | Last Modified: 24 Feb 2021, 5:07 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: CCDC151; 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.
Comment on list classification: REF 25192045: we identified CCDC151 loss-of-function mutations in five affected individuals from three independent families whose cilia showed a complete loss of ODAs and severely impaired ciliary beating.Created: 10 May 2016, 9:16 a.m.
See Hjeij et al. Am J Hum Genet. 2014 Sep 4;95(3):257-74.Created: 8 Dec 2015, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 30, 616037
Variants in this GENE are reported as part of current diagnostic practice
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 30
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: CCDC151.
Mode of inheritance for gene CCDC151 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 30, 616037 for gene: CCDC151
Source Expert Review Green was added to CCDC151. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC151 was added gene: CCDC151 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CCDC151 was set to