Primary ciliary disorders
Gene: C21orf59Added new-gene-name tag, new approved HGNC gene symbol is CFAP298Created: 21 Mar 2018, 1:41 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.
Mode of inheritance for C21orf59 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
C21orf59 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
C21orf59 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN