PanelApp (test)
  1. Panels
  2. Susceptibility to Fungal Infections
Description
This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.

Updated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al.
Panel Activity

2 reviewers

  • Peter McNaughton (Queensland Children's Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

10 Entities

10 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green Green List (high evidence)
AIRE
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Tags
Green Green List (high evidence)
CARD9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 2, autosomal recessive, MIM# 212050
  • Predisposition to invasive fungal disease, MONDO:0008905
Tags
Green Green List (high evidence)
IL17RA
1 review
1 green 		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
Tags
Green Green List (high evidence)
IL17RC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 9, MIM# 616445
  • MONDO:0014642
Tags
Green Green List (high evidence)
RORC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 42, MIM# 616622
  • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710
Tags
Green Green List (high evidence)
STAT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 31C, autosomal dominant, MIM# 614162
  • Predisposition to Mucocutaneous Candidiasis
Tags
Green Green List (high evidence)
STAT3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyper-IgE recurrent infection syndrome , MIM#147060
  • Mucocutaneous candidiasis
Tags
Amber Amber List (moderate evidence)
TRAF3IP2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 8, MIM# 615527
Tags
Red Red List (low evidence)
CLEC7A
2 reviews
2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Candidiasis, familial, 4, autosomal recessive MIM#613108
  • {Aspergillosis, susceptibility to} , MIM#614079
  • Mucocutaneous candidiasis
Tags
Red Red List (low evidence)
IL17F
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Tags

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