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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 24094744 - 4 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

Details

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

History Filter Activity

25 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

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

25 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: C21orf59. Tag CFAP298 was removed from gene: C21orf59.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 26 for gene: C21orf59

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to C21orf59. Added phenotypes Ciliary dyskinesia, primary, 26 for gene: C21orf59 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: C21orf59 were changed from Ciliary dyskinesia, primary, 26 to Ciliary dyskinesia, primary, 26

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: C21orf59 were changed from Ciliary dyskinesia, primary, 26; 1 to Ciliary dyskinesia, primary, 26

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to C21orf59. Added phenotypes Ciliary dyskinesia, primary, 26 for gene: C21orf59 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: C21orf59. Tag CFAP298 tag was added to gene: C21orf59.

27 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: C21orf59 was added gene: C21orf59 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf59 were set to 1