PanelApp (test)
  1. Panels
  2. Mendelian susceptibility to Immune Disorders
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.
Panel Activity

3 reviewers

  • Peter McNaughton (Queensland Children's Hospital)

  • Chirag Patel (Genetic Health Queensland)

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

19 Entities

19 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green Green List (high evidence)
CYBB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFNGR1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950
  • Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Tags
Green Green List (high evidence)
IFNGR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 28, mycobacteriosis, MIM# 614889
Tags
Green Green List (high evidence)
IL12B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 29, mycobacteriosis, MIM# 614890
Tags
Green Green List (high evidence)
IL12RB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 30, MIM# 614891
Tags
Green Green List (high evidence)
IL23R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-related
Tags
Green Green List (high evidence)
IRF1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668
Tags
Green Green List (high evidence)
IRF8
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Tags
Green Green List (high evidence)
ISG15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 38, MIM# 616126
Tags
Green Green List (high evidence)
MCTS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 118, mycobacteriosis, MIM# 301115
Tags
Green Green List (high evidence)
RORC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STAT1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TYK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 35, MIM# 611521
Tags
Green Green List (high evidence)
ZNFX1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 91 and hyperinflammation, MIM# 619644
Tags
Amber Amber List (moderate evidence)
MAPK8
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Chronic mucocutaneous candidiasis
  • Connective tissue disorders
Tags
Amber Amber List (moderate evidence)
SPPL2A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 86, MIM#619549
Tags
Amber Amber List (moderate evidence)
TBX21
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 88, MIM# 619630
Tags
Red Red List (low evidence)
IFNG
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mendelian susceptibility to mycobacterial disease
  • Immunodeficiency 69, MIM#618963
Tags
No list No list
USP18
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Susceptibility to mycobacterial disease
Tags

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