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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. C21orf59
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: C21orf59

Green List (high evidence)
C21orf59 (chromosome 21 open reading frame 59)
EnsemblGeneIds (GRCh38): ENSG00000159079
EnsemblGeneIds (GRCh37): ENSG00000159079
OMIM: 615494, Gene2Phenotype
C21orf59 is in 6 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298
Created: 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 given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.142

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

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

Created: 8 Feb 2017, 4:18 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

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 families
Created: 10 May 2016, 8:54 a.m.
Created: 10 May 2016, 8:54 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
new-gene-name
OMIM
615494
Clinvar variants
Variants in C21orf59
Penetrance
None
Panels with this gene

History Filter Activity

9 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: C21orf59.

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene C21orf59 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 26, 615500 for gene: C21orf59

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to C21orf59. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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