Rare multisystem ciliopathy disorders
Gene: C21orf59
C21orf59 (chromosome 21 open reading frame 59)
EnsemblGeneIds (GRCh38): ENSG00000159079
EnsemblGeneIds (GRCh37): ENSG00000159079
OMIM: 615494, Gene2Phenotype
C21orf59 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000159079
EnsemblGeneIds (GRCh37): ENSG00000159079
OMIM: 615494, Gene2Phenotype
C21orf59 is in 6 panels
2 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.
Alice Gardham (Genomics England)
Comment when marking as ready: primary ciliary dyskinesia not included on this gene panelCreated: 23 Jan 2017, 2:16 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Ciliary dyskinesia, primary, 26, 615500
- Tags
- OMIM
- 615494
- Clinvar variants
- Variants in C21orf59
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)C21orf59 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
25 Nov 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene C21orf59 were set to Ciliary dyskinesia, primary, 26, 615500
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)C21orf59 was created by ellenmcdonagh
5 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)C21orf59 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list