PanelApp (test)
  1. Panels
  2. Defects of innate immunity
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

5 reviewers

  • Peter McNaughton (Queensland Children's Hospital)

  • Achchuthan Shanmugasundram (Genomics England)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Sangavi Sivagnanasundram (Melbourne Health)

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

53 Entities

53 reviewed, 39 green

List Entity Reviews Mode of inheritance Details
53 Entities
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)
CIB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis 3 618267
  • HPV infections and cancer of the skin
Tags
Green Green List (high evidence)
CLCN7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 4 MIM#611490
Tags
Green Green List (high evidence)
CXCR4
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
  • WHIM syndrome 1, MIM# 193670
Tags
Green Green List (high evidence)
CYBB
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease, X-linked, MIM# 306400
Tags
Green Green List (high evidence)
HMOX1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Heme oxygenase-1 deficiency, MIM# 614034
  • Asplenia
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)
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)
IL23R
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency disease, MONDO:0021094
  • Susceptibility to mycobacteria and Salmonella
Tags
Green Green List (high evidence)
IRAK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 67, MIM# 607676
Tags
Green Green List (high evidence)
IRF7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 39, MIM# 616345
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)
MYD88
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 68, MIM# 612260
Tags
Green Green List (high evidence)
NBAS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800
  • Infantile liver failure syndrome 2 MIM#616483
Tags
Green Green List (high evidence)
NCSTN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acne inversa, familial, 1 MIM#142690
Tags
Green Green List (high evidence)
OSTM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 5 MIM#259720
Tags
Green Green List (high evidence)
PLEKHM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 6 MIM#611497
Tags
Green Green List (high evidence)
PSEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ?Acne inversa, familial, 3 MIM#613737
Tags
Green Green List (high evidence)
PSENEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736
Tags
Green Green List (high evidence)
RANBP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
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
Tags
Green Green List (high evidence)
RPSA
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
  • Asplenia, isolated congenital, MIM# 271400
Tags
Green Green List (high evidence)
SNX10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 8 MIM#615085
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)
STAT2
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)
TBK1
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)
TCIRG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 1 MIM#259700
Tags
Green Green List (high evidence)
TICAM1
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)
TLR3
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)
TMC6
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)
TMC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermodysplasia verruciformis 2, MIM# 618231
Tags
Green Green List (high evidence)
TNFRSF11A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 7 MIM#612301
Tags
Green Green List (high evidence)
TNFSF11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 2 MIM#259710
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
Amber Amber List (moderate evidence)
FCGR3A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 20, MIM# 615707
Tags
Amber Amber List (moderate evidence)
JAK1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Susceptibility to mycobacteria and viruses
  • Viral infections
  • Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Tags
Amber Amber List (moderate evidence)
SPPL2A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 86, MIM#619549
  • Susceptibility to mycobacteria and Salmonella
Tags
Amber Amber List (moderate evidence)
TBX21
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 88, MIM# 619630
  • Susceptibility to mycobacterial disease
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
Amber Amber List (moderate evidence)
UNC93B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Tags
Red Red List (low evidence)
APOL1
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
  • {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Tags
Red Red List (low evidence)
CASP4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary susceptibility to infection, MONDO:0015979, CASP4-related
  • Susceptibility to meliodiosis
Tags
Red Red List (low evidence)
IL12RB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
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
Red Red List (low evidence)
IRAK1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Susceptibility to bacterial infections
Tags
  • SV/CNV
Red Red List (low evidence)
MAP1LC3B2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related
  • Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2
Tags
Red Red List (low evidence)
TIRAP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Staphylococcal disease during childhood
Tags
Red Red List (low evidence)
TRAF3
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
  • {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Tags

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