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  3. C21orf59
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Heterotaxy

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population
Created: 4 May 2020, 10:52 a.m. | Last Modified: 4 May 2020, 10:52 a.m.
Panel Version: 0.21
At least three unrelated families reported. HGNC approved name CFAP298.
Created: 3 May 2020, 3:54 a.m. | Last Modified: 3 May 2020, 3:54 a.m.
Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 26, MIM# 615500

Publications

Created: 3 May 2020, 3:54 a.m.
Last Modified: 3 May 2020, 3:54 a.m.
Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 26, MIM# 615500
Tags
founder new gene name
OMIM
615494
Clinvar variants
Variants in C21orf59
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c21orf59 has been classified as Green List (High Evidence).

4 May 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: C21orf59.

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c21orf59 has been classified as Green List (High Evidence).

3 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C21orf59 were set to

3 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 May 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C21orf59 was added gene: C21orf59 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C21orf59 was set to Unknown