PanelApp (test)
  1. Panels
  2. Susceptibility to Viral 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. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.
Panel Activity

5 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Sarah Pantaleo (Victorian Clinical Genetics Services)

  • Peter McNaughton (Queensland Children's Hospital)

55 Entities

55 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
55 Entitiess
Green Green List (high evidence)
CCR5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • {Hepatitis C virus, resistance to} 609532
  • {HIV infection, susceptibility/resistance to}
  • {West nile virus, susceptibility to}MIM# 610379
Tags
Green Green List (high evidence)
CD27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Lymphoproliferative syndrome 2, MIM# 615122
  • Host response to EBV
Tags
Green Green List (high evidence)
CD4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Immunodeficiency 79, MIM# 619238
  • Absence of CD4+ T cells
  • exuberant, relapsing, treatment-refractory warts
Tags
Green Green List (high evidence)
CD70
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Lymphoproliferative syndrome 3, MIM# 618261
  • Host response to EBV
Tags
  • treatable
Green Green List (high evidence)
CIB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Epidermodysplasia verruciformis 3, MIM# 618267
  • HPV infections and cancer of the skin
Tags
Green Green List (high evidence)
CXCR4
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)
DBR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441
  • Viral infections of the brainstem
Tags
Green Green List (high evidence)
DOCK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Inborn error of immunity, MONDO:0003778, DOCK2-related
Tags
Green Green List (high evidence)
IFIH1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Severe viral respiratory infections
  • Rhinovirus and other RNA viruses
Tags
Green Green List (high evidence)
IFNAR1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Immunodeficiency 106, susceptibility to viral infections, MIM# 619935
  • Severe disease caused by Yellow Fever vaccine and Measles vaccine
Tags
Green Green List (high evidence)
IFNAR2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Immunodeficiency 45, MIM# 616669
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
Disease associations
  • Immunodeficiency 39, MIM# 616345
Tags
Green Green List (high evidence)
ITGAL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Epidermodysplasia verruciformis, susceptibility to, 6, MIM#621588
Tags
Green Green List (high evidence)
ITK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Lymphoproliferative syndrome 1, MIM# 613011
  • EBV- associated B cell lymphoproliferation, lymphoma
Tags
Green Green List (high evidence)
MAGT1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Tags
Green Green List (high evidence)
MSN
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Immunodeficiency 50, MIM# 300988
Tags
Green Green List (high evidence)
OAS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409
Tags
Green Green List (high evidence)
PLCG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related
  • Susceptibility to herpes virus
Tags
Green Green List (high evidence)
SH2D1A
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Host response to EBV infection
  • Lymphoproliferative syndrome, X-linked, 1 308240
Tags
Green Green List (high evidence)
SNORA31
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Tags
  • non-coding gene
Green Green List (high evidence)
STAT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Disease associations
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796
Tags
Green Green List (high evidence)
STAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Disease associations
  • Susceptibility to viral disease
Tags
Green Green List (high evidence)
TBK1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Disease associations
  • Hereditary predisposition to infections, MONDO:0015979, TBK1-related
Tags
Green Green List (high evidence)
TICAM1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Disease associations
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
Tags
Green Green List (high evidence)
TLR3
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Disease associations
  • {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002
Tags
Green Green List (high evidence)
TLR7
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051
Tags
Green Green List (high evidence)
TMC6
1 review
 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 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TMEFF1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related
  • HSV encephalitis
Tags
Green Green List (high evidence)
TNFRSF9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Immunodeficiency 109 with lymphoproliferation, MIM# 620282
Tags
Green Green List (high evidence)
XIAP
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Lymphoproliferative syndrome, X-linked, 2 300635
  • Host response to EBV
Tags
Green Green List (high evidence)
ZNFX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Immunodeficiency 91 and hyperinflammation, MIM# 619644
Tags
Amber Amber List (moderate evidence)
CD28
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901
  • isolated susceptibility to cutaneous α- and γ-HPVs
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
Disease associations
  • Immunodeficiency 20, MIM# 615707
Tags
Amber Amber List (moderate evidence)
IKBKE
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related
Tags
Amber Amber List (moderate evidence)
IL18BP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • {Hepatitis, fulminant viral, susceptibility to} 618549
Tags
Amber Amber List (moderate evidence)
IL27RA
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405
Tags
Amber Amber List (moderate evidence)
IRF3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532
Tags
Amber Amber List (moderate evidence)
IRF9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Immunodeficiency 65, susceptibility to viral infections 618648
Tags
Amber Amber List (moderate evidence)
MCM10
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313
  • Susceptibility to CMV
Tags
Amber Amber List (moderate evidence)
NFATC2
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related
Tags
Amber Amber List (moderate evidence)
POLR3A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Severe VZV infection
Tags
Amber Amber List (moderate evidence)
POLR3C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Severe VZV infection
Tags
Amber Amber List (moderate evidence)
RIPK3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related
  • Recurrent HSV encephalitis
Tags
Amber Amber List (moderate evidence)
RNASEL
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related
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
Disease associations
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Tags
Red Red List (low evidence)
FUT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Norwalk virus infection, resistance to
Tags
Red Red List (low evidence)
NLRP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Recurrent respiratory papillomatosis
Tags
Red Red List (low evidence)
NOS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Disseminated CMV disease
Tags
Red Red List (low evidence)
POLR3F
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Tags
Red Red List (low evidence)
TAOK2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Disease associations
  • Inborn error of immunity, MONDO:0003778, TAOK2-related
Tags
Red Red List (low evidence)
TNFRSF4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Immunodeficiency 16, MIM# 615593
Tags
Red Red List (low evidence)
TNFSF9
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related
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
Disease associations
  • {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Tags
Red Red List (low evidence)
TRIM69
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Susceptibility to herpes simplex encephalitis
Tags

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