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  3. IL17RA
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Susceptibility to Fungal Infections

Gene: IL17RA

Green List (high evidence)
IL17RA (interleukin 17 receptor A)
EnsemblGeneIds (GRCh38): ENSG00000177663
EnsemblGeneIds (GRCh37): ENSG00000177663
OMIM: 605461, Gene2Phenotype
IL17RA is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Immunodeficiency-51 is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A, IL17F, IL17A/F, and IL17E.

More than 10 families reported.
Created: 6 Apr 2021, 10:47 a.m. | Last Modified: 6 Apr 2021, 10:47 a.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 51, MIM# 613953

Publications

Created: 6 Apr 2021, 10:47 a.m.
Last Modified: 6 Apr 2021, 10:47 a.m.
Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 51, MIM# 613953
  • MONDO:0013500
OMIM
605461
Clinvar variants
Variants in IL17RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL17RA were changed from Immunodeficiency 51, MIM# 613953; MONDO:0013500 to Immunodeficiency 51, MIM# 613953; MONDO:0013500

6 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL17RA were changed from Immunodeficiency 51, MIM# 613953 to Immunodeficiency 51, MIM# 613953; MONDO:0013500

6 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il17ra has been classified as Green List (High Evidence).

6 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL17RA were changed from to Immunodeficiency 51, MIM# 613953

6 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IL17RA were set to

6 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IL17RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL17RA was added gene: IL17RA was added to Susceptibility to fungal infections_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IL17RA was set to Unknown