PanelApp (stage)
  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

  • Peter McNaughton (Queensland Children's Hospital)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Sarah Pantaleo (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

47 Entities

47 reviewed, 28 green

List Entity Reviews Mode of inheritance Details
47 Entitiess
Green Green List (high evidence)
CCR5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441
  • Viral infections of the brainstem
Tags
Green Green List (high evidence)
IFIH1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Immunodeficiency 39, MIM# 616345
Tags
Green Green List (high evidence)
ITK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Immunodeficiency 50, MIM# 300988
Tags
Green Green List (high evidence)
PLCG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Tags
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
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796
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
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Phenotypes
  • {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
Phenotypes
  • {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
Phenotypes
  • 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)
TNFRSF9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Hereditary predisposition to infections, MONDO:0015979, CD28-related
  • 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
Phenotypes
  • Immunodeficiency 20, MIM# 615707
Tags
Amber Amber List (moderate evidence)
IL27RA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
Tags
Amber Amber List (moderate evidence)
IRF3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • {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
Phenotypes
  • 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
Phenotypes
  • Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313
  • Susceptibility to CMV
Tags
Amber Amber List (moderate evidence)
POLR3A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Severe VZV infection
Tags
Amber Amber List (moderate evidence)
POLR3C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Severe VZV infection
Tags
Amber Amber List (moderate evidence)
RIPK3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related
  • Recurrent HSV encephalitis
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)
FUT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Norwalk virus infection, resistance to
Tags
Red Red List (low evidence)
IL18BP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • {?Hepatitis, fulminant viral, susceptibility to} 618549
Tags
Red Red List (low evidence)
NLRP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Recurrent respiratory papillomatosis
Tags
Red Red List (low evidence)
NOS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • 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
Phenotypes
  • Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Tags
Red Red List (low evidence)
TAOK2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Generalized verrucosis
  • abnormal T cell activation
Tags
Red Red List (low evidence)
TNFRSF4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Immunodeficiency 16, MIM# 615593
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
Red Red List (low evidence)
TRIM69
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Susceptibility to herpes simplex encephalitis
Tags

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