Respiratory ciliopathies including non-CF bronchiectasis
Gene: CCDC65
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: CCDC65; 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, 27, 615504
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Multiple patients reportedCreated: 10 May 2016, 9 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 27
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Source Expert Review Green was added to CCDC65. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC65 was added gene: CCDC65 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CCDC65 was set to