Primary ciliary disorders
Gene: C21orf59EnsemblGeneIds (GRCh38): ENSG00000159079
EnsemblGeneIds (GRCh37): ENSG00000159079
OMIM: 615494, Gene2Phenotype
C21orf59 is in 6 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is CFAP298Created: 21 Mar 2018, 1:41 p.m.
Ian Berry (Leeds Genetics Laboratory)
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
Hannah Mitchison (UCL and GOSH)
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
- PMID:24094744
Variants in this GENE are reported as part of current diagnostic practice
Caroline Wright (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ciliary dyskinesia, primary, 26, 615500
- Tags
- OMIM
- 615494
- Clinvar variants
- Variants in C21orf59
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for C21orf59 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)C21orf59 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)C21orf59 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN