Respiratory ciliopathies including non-CF bronchiectasis
Gene: C21orf59
Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298Created: 9 May 2019, 3:15 p.m.
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: C21orf59; 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, 26, 615500
Variants in this GENE are reported as part of current diagnostic practice
A single human genetics publication exists on this gene. But there is a nice functional paper describing it's motile cilia role: 21orf59/kurly Controls Both Cilia Motility and Polarization. Jaffe KM et al. Cell Rep. 2016 Mar 1;14(8):1841-9. doi: 10.1016/j.celrep.2016.01.069.Created: 8 Feb 2017, 4:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 26
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: REF 24094744: Analysis of 295 individuals with PCD identified recessive truncating mutations of C21orf59 in four familiesCreated: 10 May 2016, 8:54 a.m.
Tag new-gene-name tag was added to gene: C21orf59.
Mode of inheritance for gene C21orf59 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 26, 615500 for gene: C21orf59
Source Expert Review Green was added to C21orf59. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: C21orf59 was added gene: C21orf59 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: C21orf59 was set to