Respiratory ciliopathies including non-CF bronchiectasis
Gene: CCDC40
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: CCDC40; 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
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 15, 613808
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:36 a.m.
should be considered if PCD suspectedCreated: 31 Mar 2016, 6:30 p.m.
Mode of inheritance
Unknown
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 15
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 15, 613808; Primary Ciliary Dyskinesia; Bronchiectasis for gene: CCDC40
Source Expert Review Green was added to CCDC40. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC40 was added gene: CCDC40 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CCDC40 was set to