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Prepair 1000+

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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

A 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.
>10 unrelated families reported.
One case involves a 770-kb deletion on chr22q11.1 encompassing both IL17RA and cat eye critical region 1 (PMID: 26607704).
Created: 5 Feb 2025, 3:57 a.m. | Last Modified: 5 Feb 2025, 3:57 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 51, MIM #613953

Publications

Created: 5 Feb 2025, 3:57 a.m.
Last Modified: 5 Feb 2025, 3:57 a.m.
Panel version: 1.1456

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 51, MIM #613953
OMIM
605461
Clinvar variants
Variants in IL17RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, 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).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL17RA were changed from Immunodeficiency 51, 613953 (3), Autosomal recessive to Immunodeficiency 51, MIM #613953

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IL17RA were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL17RA was added gene: IL17RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL17RA were set to Immunodeficiency 51, 613953 (3), Autosomal recessive