Respiratory ciliopathies including non-CF bronchiectasis
Gene: MCIDAS
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: MCIDAS; Suggested initial gene rating: Green; Evidence for inclusion: Multiple cases of mucociliary disorder, incl. LOF mutation and functional data (Boon et al. Nat Commun. 2014 Jul 22;5:4418); Evidence for exclusion: Not yet disease-associated on OMIM or substantiated by a second report but paper looks reasonably persuasive.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
UK mutations reported. RGMC Reduced Generation of Multiple Motile CiliaCreated: 31 Dec 2016, 10:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Too new - not yet linked to the PCD mutations publication
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: REF 25048963: Sequence analyses revealed biallelic mutations in three additional families with a total of eight individuals.Created: 10 May 2016, 9:43 a.m.
Phenotypes for gene: MCIDAS were changed from to Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872
Mode of inheritance for gene MCIDAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to MCIDAS. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: MCIDAS was added gene: MCIDAS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: MCIDAS was set to