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Susceptibility to Viral Infections v0.117 IL27RA Ain Roesley Marked gene: IL27RA as ready
Susceptibility to Viral Infections v0.117 IL27RA Ain Roesley Gene: il27ra has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.117 IL27RA Ain Roesley Classified gene: IL27RA as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.117 IL27RA Ain Roesley Gene: il27ra has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.116 IL27RA Ain Roesley gene: IL27RA was added
gene: IL27RA was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL27RA were set to 38509369
Phenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
Review for gene: IL27RA was set to AMBER
gene: IL27RA was marked as current diagnostic
Added comment: 3 children from 2 families with severe acute EBV infection.

fam1: homozygous for p.(Gln96*) (NMD-pred)
fam2: chet for p.(Arg446Gly) and c.1142-2A>C

the splice variant in fam2 was found to to result in an in-frame deletion p.(Gln381_Ala395del)
the missense in fam2 is hypothesised to be a hypomorphic allele:
- out of 15 Homs in the Finnish database, 2 had hospital diagnoses of EBV IM
- expression of this variant on its own results in a weak but detectable IL-27RA expression associated with significant increase in STAT1/3 phosphorus in response to IL-27 stimulation

borderline amber/green due to functional studies performed
Sources: Literature
Susceptibility to Viral Infections v0.115 PLCG2 Zornitza Stark Marked gene: PLCG2 as ready
Susceptibility to Viral Infections v0.115 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.115 PLCG2 Zornitza Stark Phenotypes for gene: PLCG2 were changed from Susceptibility to herpes virus to Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related; Susceptibility to herpes virus
Susceptibility to Viral Infections v0.114 PLCG2 Zornitza Stark Classified gene: PLCG2 as Green List (high evidence)
Susceptibility to Viral Infections v0.114 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.113 PLCG2 Peter McNaughton gene: PLCG2 was added
gene: PLCG2 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLCG2 were set to PMID: 37714437
Phenotypes for gene: PLCG2 were set to Susceptibility to herpes virus
Review for gene: PLCG2 was set to GREEN
Added comment: Patients from two unrelated nonconsanguineous families with PLCG2 haploinsufficiency, characterized by herpesvirus infections and reduced NK cell killing. A mouse model of haploinsufficiency was validated by comparing wildtype (Plcg2+/+) and Plcg2+/- mice, NK cell maturation was increased in Plcg2+/- mice, NK1.1-induced calcium flux was attenuated in Plcg2+/- NK cells, NK cell killing of RMA-S target cells was inhibited in Plcg2+/- mice
Sources: Literature
Susceptibility to Viral Infections v0.113 CD70 Zornitza Stark Tag treatable tag was added to gene: CD70.
Susceptibility to Viral Infections v0.113 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Susceptibility to Viral Infections v0.113 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.113 TNFRSF9 Zornitza Stark Phenotypes for gene: TNFRSF9 were changed from EBV associated lymphoproliferative disease to Immunodeficiency 109 with lymphoproliferation, MIM# 620282
Susceptibility to Viral Infections v0.112 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Susceptibility to Viral Infections v0.112 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.111 RIPK3 Zornitza Stark Marked gene: RIPK3 as ready
Susceptibility to Viral Infections v0.111 RIPK3 Zornitza Stark Gene: ripk3 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.111 RIPK3 Zornitza Stark Phenotypes for gene: RIPK3 were changed from Recurrent HSV encephalitis to Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related; Recurrent HSV encephalitis
Susceptibility to Viral Infections v0.110 RIPK3 Zornitza Stark Classified gene: RIPK3 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.110 RIPK3 Zornitza Stark Gene: ripk3 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.109 TNFRSF9 Peter McNaughton gene: TNFRSF9 was added
gene: TNFRSF9 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to PMID: 37144041
Phenotypes for gene: TNFRSF9 were set to EBV associated lymphoproliferative disease
Review for gene: TNFRSF9 was set to GREEN
Added comment: Patient with novel biallelic variants (c.208 + 1>AT and p.T151K) with EBV induced lymphoproliferative disease and chronic active EBV. Multiple previous patients reported with EBV associated disease (table1).
Sources: Literature
Susceptibility to Viral Infections v0.109 RIPK3 Peter McNaughton gene: RIPK3 was added
gene: RIPK3 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: RIPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK3 were set to PMID: 37083451
Phenotypes for gene: RIPK3 were set to Recurrent HSV encephalitis
Review for gene: RIPK3 was set to AMBER
Added comment: Single female patient with independent episodes of HSE at 6 and 17 months of age and with autoimmune encephalitis 1 month after the second episode of HSE with two heterozygous mutations of RIPK3 predicted to be loss of function (pLOF): p. Arg422* (c.1264 C > T, MAF 0.001568, CADD 35) and p. Pro493fs9* (c.1475 C > CC, MAF 0.002611, CADD 24.2).
Extensive supportive functional data including RIPK3 knockout human pluripotent stem cell–derived cortical neurons.
Sources: Literature
Susceptibility to Viral Infections v0.109 STAT2 Peter McNaughton changed review comment from: Susceptibility to virus including disseminated vaccine strain measles.; to: Susceptibility to virus including disseminated vaccine strain measles.

Additional publication
PMID: 36976641
Susceptibility to Viral Infections v0.109 STAT2 Peter McNaughton changed review comment from: Susceptibility to virus including disseminated vaccine strain measles.; to: Susceptibility to virus including disseminated vaccine strain measles.
Susceptibility to Viral Infections v0.109 Zornitza Stark HPO terms changed from to Recurrent viral infections, HP:0004429; Severe viral infection, HP:0031691
List of related panels changed from to Recurrent viral infections; HP:0004429; Severe viral infection; HP:0031691
Susceptibility to Viral Infections v0.108 IRF7 Zornitza Stark Publications for gene: IRF7 were set to 25814066; 15800576
Susceptibility to Viral Infections v0.107 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Susceptibility to Viral Infections v0.107 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.106 IRF7 Zornitza Stark edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed rating: GREEN; Changed publications: 25814066, 15800576, 35986347, 35670811
Susceptibility to Viral Infections v0.106 TMC8 Peter McNaughton reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34459021, 28646613, 12426567; Phenotypes: Epidermodysplasia verruciformis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.106 TMC6 Peter McNaughton reviewed gene: TMC6: Rating: ; Mode of pathogenicity: None; Publications: PMID: 12426567, PMID 15042430; Phenotypes: Epidermodysplasia veruciformis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.106 CXCR4 Peter McNaughton reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Marked gene: TLR3 as ready
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Gene: tlr3 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Phenotypes for gene: TLR3 were changed from to {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002
Susceptibility to Viral Infections v0.105 TLR3 Zornitza Stark Publications for gene: TLR3 were set to
Susceptibility to Viral Infections v0.104 TLR3 Zornitza Stark Mode of inheritance for gene: TLR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.103 TLR3 Zornitza Stark reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Marked gene: TICAM1 as ready
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Gene: ticam1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Phenotypes for gene: TICAM1 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
Susceptibility to Viral Infections v0.102 TICAM1 Zornitza Stark Publications for gene: TICAM1 were set to
Susceptibility to Viral Infections v0.101 TICAM1 Zornitza Stark edited their review of gene: TICAM1: Added comment: Two each with bi-allelic and mono-allelic variants (total of 4 patients), plus functional data.; Changed publications: 22105173, 26513235
Susceptibility to Viral Infections v0.101 STAT2 Peter McNaughton reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23391734, PMID: 34448086; Phenotypes: Susceptibility to viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.101 TICAM1 Zornitza Stark Mode of inheritance for gene: TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.100 TICAM1 Zornitza Stark reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796
Susceptibility to Viral Infections v0.99 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Susceptibility to Viral Infections v0.98 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.97 STAT1 Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Marked gene: TBK1 as ready
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Gene: tbk1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from to Hereditary predisposition to infections, MONDO:0015979, TBK1-related
Susceptibility to Viral Infections v0.96 TBK1 Zornitza Stark Publications for gene: TBK1 were set to
Susceptibility to Viral Infections v0.95 TBK1 Zornitza Stark Mode of pathogenicity for gene: TBK1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other
Susceptibility to Viral Infections v0.95 TBK1 Zornitza Stark Mode of pathogenicity for gene: TBK1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Susceptibility to Viral Infections v0.94 TLR3 Peter McNaughton reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17872438, PMID: 25339207; Phenotypes: Herpes encephalitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.94 TBK1 Zornitza Stark Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.93 TBK1 Zornitza Stark reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Hereditary predisposition to infections, MONDO:0015979, TBK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.93 TICAM1 Peter McNaughton reviewed gene: TICAM1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 22105173; Phenotypes: Herpes encephalitis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.93 STAT1 Peter McNaughton reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12590259, PMID: 16585605; Phenotypes: Susceptibility to mycobacterial disease, severe viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.93 TBK1 Peter McNaughton reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22851595; Phenotypes: Susceptibility to herpes encephalitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.93 MCM10 Zornitza Stark Publications for gene: MCM10 were set to 32865517
Susceptibility to Viral Infections v0.92 MCM10 Zornitza Stark Classified gene: MCM10 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.92 MCM10 Zornitza Stark Gene: mcm10 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.91 MCM10 Peter McNaughton reviewed gene: MCM10: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33712616; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.91 CD28 Zornitza Stark Marked gene: CD28 as ready
Susceptibility to Viral Infections v0.91 CD28 Zornitza Stark Gene: cd28 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.91 CD28 Zornitza Stark Classified gene: CD28 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.91 CD28 Zornitza Stark Gene: cd28 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.90 CD28 Zornitza Stark reviewed gene: CD28: Rating: AMBER; Mode of pathogenicity: None; Publications: 34214472; Phenotypes: Hereditary predisposition to infections, MONDO:0015979, CD28-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.90 CD28 Zornitza Stark Phenotypes for gene: CD28 were changed from Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs to Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs
Susceptibility to Viral Infections v0.89 CD28 Zornitza Stark Phenotypes for gene: CD28 were changed from isolated susceptibility to cutaneous α- and γ-HPVs to Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs
Susceptibility to Viral Infections v0.88 CD28 Zornitza Stark Classified gene: CD28 as Red List (low evidence)
Susceptibility to Viral Infections v0.88 CD28 Zornitza Stark Gene: cd28 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.87 IFNAR2 Zornitza Stark Publications for gene: IFNAR2 were set to 26424569
Susceptibility to Viral Infections v0.86 IFNAR2 Zornitza Stark Classified gene: IFNAR2 as Green List (high evidence)
Susceptibility to Viral Infections v0.86 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.85 IFNAR1 Zornitza Stark Phenotypes for gene: IFNAR1 were changed from Severe disease caused by Yellow Fever vaccine and Measles vaccine to Immunodeficiency 106, susceptibility to viral infections, MIM# 619935; Severe disease caused by Yellow Fever vaccine and Measles vaccine
Susceptibility to Viral Infections v0.84 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Green List (high evidence)
Susceptibility to Viral Infections v0.84 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.83 CD28 Peter McNaughton gene: CD28 was added
gene: CD28 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD28 were set to PMID: 34214472
Phenotypes for gene: CD28 were set to isolated susceptibility to cutaneous α- and γ-HPVs
Review for gene: CD28 was set to RED
Added comment: Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data.
Sources: Literature
Susceptibility to Viral Infections v0.83 IFNAR2 Peter McNaughton reviewed gene: IFNAR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35442417; Phenotypes: Severe viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.83 IFNAR1 Peter McNaughton reviewed gene: IFNAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35442418; Phenotypes: Severe Viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.83 POLR3F Zornitza Stark Phenotypes for gene: POLR3F were changed from Severe VZV infection to Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Susceptibility to Viral Infections v0.82 POLR3F Zornitza Stark edited their review of gene: POLR3F: Changed phenotypes: Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Susceptibility to Viral Infections v0.82 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Immunodeficiency 91 and hyperinflammation, MIM# 619644
Susceptibility to Viral Infections v0.81 ZNFX1 Zornitza Stark edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644
Susceptibility to Viral Infections v0.81 UNC93B1 Zornitza Stark Marked gene: UNC93B1 as ready
Susceptibility to Viral Infections v0.81 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.81 UNC93B1 Zornitza Stark Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Susceptibility to Viral Infections v0.80 UNC93B1 Zornitza Stark Publications for gene: UNC93B1 were set to
Susceptibility to Viral Infections v0.79 UNC93B1 Zornitza Stark Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.78 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.78 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.77 UNC93B1 Zornitza Stark reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16973841, 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.77 IFIH1 Sarah Pantaleo reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34185153; Phenotypes: Inflammatory Bowel Disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.77 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from Viral infections of the brainstem to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem
Susceptibility to Viral Infections v0.76 DBR1 Zornitza Stark edited their review of gene: DBR1: Changed phenotypes: {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441, Viral infections of the brainstem
Susceptibility to Viral Infections v0.76 SNORA31 Zornitza Stark Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Susceptibility to Viral Infections v0.75 SNORA31 Zornitza Stark edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Susceptibility to Viral Infections v0.75 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Susceptibility to CMV to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Susceptibility to CMV
Susceptibility to Viral Infections v0.74 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Susceptibility to CMV
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Green List (high evidence)
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.73 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33872655
Phenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections
Review for gene: ZNFX1 was set to GREEN
Added comment: 15 individuals from 8 families reported.
Sources: Literature
Susceptibility to Viral Infections v0.72 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.72 CD4 Zornitza Stark Phenotypes for gene: CD4 were changed from Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts to Immunodeficiency 79, MIM# 619238; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Susceptibility to Viral Infections v0.71 CD4 Zornitza Stark Publications for gene: CD4 were set to 31781092
Susceptibility to Viral Infections v0.70 CD4 Zornitza Stark Classified gene: CD4 as Green List (high evidence)
Susceptibility to Viral Infections v0.70 CD4 Zornitza Stark Gene: cd4 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.69 CD4 Zornitza Stark changed review comment from: Single individual reported, functional data, emerging gene.
Sources: Literature; to: Two individuals reported, functional data.
Sources: Literature
Susceptibility to Viral Infections v0.69 CD4 Zornitza Stark edited their review of gene: CD4: Changed rating: GREEN
Susceptibility to Viral Infections v0.69 CD4 Zornitza Stark edited their review of gene: CD4: Changed publications: 31781092, 33471124
Susceptibility to Viral Infections v0.69 CD4 Zornitza Stark edited their review of gene: CD4: Changed phenotypes: Immunodeficiency 79, MIM# 619238, Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts
Susceptibility to Viral Infections v0.69 TAOK2 Bryony Thompson Marked gene: TAOK2 as ready
Susceptibility to Viral Infections v0.69 TAOK2 Bryony Thompson Gene: taok2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.69 TAOK2 Bryony Thompson gene: TAOK2 was added
gene: TAOK2 was added to Susceptibility to Viral Infections. Sources: Other
Mode of inheritance for gene: TAOK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAOK2 were set to 28385331
Phenotypes for gene: TAOK2 were set to Generalized verrucosis; abnormal T cell activation
Review for gene: TAOK2 was set to RED
Added comment: A single consanguineous family with a homozygous missense (p.R700C), and some assays on patient fibroblasts.
Sources: Other
Susceptibility to Viral Infections v0.68 TLR7 Zornitza Stark Mode of inheritance for gene: TLR7 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Susceptibility to Viral Infections v0.67 TLR7 Zornitza Stark edited their review of gene: TLR7: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Susceptibility to Viral Infections v0.67 MCM10 Zornitza Stark Marked gene: MCM10 as ready
Susceptibility to Viral Infections v0.67 MCM10 Zornitza Stark Gene: mcm10 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.67 MCM10 Zornitza Stark Mode of inheritance for gene: MCM10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.66 MCM10 Zornitza Stark gene: MCM10 was added
gene: MCM10 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: MCM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MCM10 were set to 32865517
Phenotypes for gene: MCM10 were set to Susceptibility to CMV
Review for gene: MCM10 was set to RED
Added comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV.
Sources: Literature
Susceptibility to Viral Infections v0.65 TLR7 Zornitza Stark Marked gene: TLR7 as ready
Susceptibility to Viral Infections v0.65 TLR7 Zornitza Stark Gene: tlr7 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.65 TLR7 Zornitza Stark Classified gene: TLR7 as Green List (high evidence)
Susceptibility to Viral Infections v0.65 TLR7 Zornitza Stark Gene: tlr7 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.64 TLR7 Zornitza Stark gene: TLR7 was added
gene: TLR7 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: TLR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TLR7 were set to 32706371
Phenotypes for gene: TLR7 were set to Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051
Review for gene: TLR7 was set to GREEN
Added comment: Four affected individuals from two unrelated families and some functional data.
Sources: Expert list
Susceptibility to Viral Infections v0.61 FUT2 Zornitza Stark Marked gene: FUT2 as ready
Susceptibility to Viral Infections v0.61 FUT2 Zornitza Stark Gene: fut2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.61 FUT2 Zornitza Stark gene: FUT2 was added
gene: FUT2 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: FUT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUT2 were set to Norwalk virus infection, resistance to
Review for gene: FUT2 was set to RED
Added comment: Not a monogenic condition, but individuals homozygous for p.(Trp143Ter) are resistant to norovirus infection.
Sources: Expert list
Susceptibility to Viral Infections v0.60 CCR5 Zornitza Stark Marked gene: CCR5 as ready
Susceptibility to Viral Infections v0.60 CCR5 Zornitza Stark Gene: ccr5 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.60 CCR5 Zornitza Stark Classified gene: CCR5 as Green List (high evidence)
Susceptibility to Viral Infections v0.60 CCR5 Zornitza Stark Gene: ccr5 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.59 CCR5 Zornitza Stark gene: CCR5 was added
gene: CCR5 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: CCR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCR5 were set to {Hepatitis C virus, resistance to} 609532; {HIV infection, susceptibility/resistance to}; {West nile virus, susceptibility to}MIM# 610379
Review for gene: CCR5 was set to GREEN
Added comment: Particular SNVs in this gene are well established as conferring resistance to certain viral infections, notably HIV.
Sources: Expert list
Susceptibility to Viral Infections v0.58 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Susceptibility to Viral Infections v0.58 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.58 TNFRSF4 Zornitza Stark gene: TNFRSF4 was added
gene: TNFRSF4 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: TNFRSF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF4 were set to 23897980
Phenotypes for gene: TNFRSF4 were set to Immunodeficiency 16, MIM# 615593
Review for gene: TNFRSF4 was set to RED
Added comment: Single case report in an individual with childhood-onset Kaposi's sarcoma (susceptibility to HHV8), homozygous missense variant, plausible biological candidate but direct evidence of causality limited.
Sources: Expert list
Susceptibility to Viral Infections v0.57 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Susceptibility to Viral Infections v0.57 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.57 MAGT1 Zornitza Stark Classified gene: MAGT1 as Green List (high evidence)
Susceptibility to Viral Infections v0.57 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.56 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 21796205; 24550228; 25504528
Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Review for gene: MAGT1 was set to GREEN
Added comment: Multiple unrelated families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.55 TRIM69 Zornitza Stark Marked gene: TRIM69 as ready
Susceptibility to Viral Infections v0.55 TRIM69 Zornitza Stark Gene: trim69 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.55 TRIM69 Zornitza Stark gene: TRIM69 was added
gene: TRIM69 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: TRIM69 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TRIM69 were set to 22105173
Phenotypes for gene: TRIM69 were set to Susceptibility to herpes simplex encephalitis
Review for gene: TRIM69 was set to RED
Added comment: One individual with bi-allelic and one individual with mono-allelic variants in this gene described.
Sources: Expert list
Susceptibility to Viral Infections v0.54 CD4 Zornitza Stark Marked gene: CD4 as ready
Susceptibility to Viral Infections v0.54 CD4 Zornitza Stark Gene: cd4 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.54 CD4 Zornitza Stark Classified gene: CD4 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.54 CD4 Zornitza Stark Gene: cd4 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.53 CD4 Zornitza Stark gene: CD4 was added
gene: CD4 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: CD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD4 were set to 31781092
Phenotypes for gene: CD4 were set to Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Review for gene: CD4 was set to AMBER
Added comment: Single individual reported, functional data, emerging gene.
Sources: Literature
Susceptibility to Viral Infections v0.52 POLR3C Zornitza Stark Marked gene: POLR3C as ready
Susceptibility to Viral Infections v0.52 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.52 IL18BP Zornitza Stark Marked gene: IL18BP as ready
Susceptibility to Viral Infections v0.52 IL18BP Zornitza Stark Gene: il18bp has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.52 NOS2 Zornitza Stark Marked gene: NOS2 as ready
Susceptibility to Viral Infections v0.52 NOS2 Zornitza Stark Gene: nos2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.52 NOS2 Zornitza Stark gene: NOS2 was added
gene: NOS2 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: NOS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOS2 were set to 31995689
Phenotypes for gene: NOS2 were set to Disseminated CMV disease
Review for gene: NOS2 was set to RED
Added comment: Single individual reported with progressive, fatal CMV disease and homozygous LoF variant in NOS2.
Sources: Expert list
Susceptibility to Viral Infections v0.51 CD70 Zornitza Stark Marked gene: CD70 as ready
Susceptibility to Viral Infections v0.51 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.51 CD70 Zornitza Stark Classified gene: CD70 as Green List (high evidence)
Susceptibility to Viral Infections v0.51 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.50 CD70 Zornitza Stark gene: CD70 was added
gene: CD70 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD70 were set to 28011864; 28011863,
Phenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261; Host response to EBV
Review for gene: CD70 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.49 CD27 Zornitza Stark Marked gene: CD27 as ready
Susceptibility to Viral Infections v0.49 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.49 CD27 Zornitza Stark Classified gene: CD27 as Green List (high evidence)
Susceptibility to Viral Infections v0.49 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.48 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD27 were set to 22801960; 22197273
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, MIM# 615122; Host response to EBV
Review for gene: CD27 was set to GREEN
Added comment: At least four families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.47 ITK Zornitza Stark Marked gene: ITK as ready
Susceptibility to Viral Infections v0.47 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.47 ITK Zornitza Stark Classified gene: ITK as Green List (high evidence)
Susceptibility to Viral Infections v0.47 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.46 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITK were set to 19425169; 22289921; 21109689
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011; EBV- associated B cell lymphoproliferation, lymphoma
Review for gene: ITK was set to GREEN
Added comment: At least three families reported, abnormal host response to EBV.
Sources: Expert list
Susceptibility to Viral Infections v0.45 XIAP Zornitza Stark Marked gene: XIAP as ready
Susceptibility to Viral Infections v0.45 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.45 XIAP Zornitza Stark Classified gene: XIAP as Green List (high evidence)
Susceptibility to Viral Infections v0.45 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.44 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: XIAP were set to 17080092
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2 300635; Host response to EBV
Review for gene: XIAP was set to GREEN
Added comment: Sources: Expert list
Susceptibility to Viral Infections v0.43 SH2D1A Zornitza Stark Marked gene: SH2D1A as ready
Susceptibility to Viral Infections v0.43 SH2D1A Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.43 SH2D1A Zornitza Stark Classified gene: SH2D1A as Green List (high evidence)
Susceptibility to Viral Infections v0.43 SH2D1A Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.42 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH2D1A were set to 9771704
Phenotypes for gene: SH2D1A were set to Host response to EBV infection; Lymphoproliferative syndrome, X-linked, 1 308240
Review for gene: SH2D1A was set to GREEN
Added comment: Sources: Expert list
Susceptibility to Viral Infections v0.41 NLRP1 Zornitza Stark Marked gene: NLRP1 as ready
Susceptibility to Viral Infections v0.41 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.41 NLRP1 Zornitza Stark gene: NLRP1 was added
gene: NLRP1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: NLRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLRP1 were set to 31484767
Phenotypes for gene: NLRP1 were set to Recurrent respiratory papillomatosis
Review for gene: NLRP1 was set to RED
Added comment: Single family reported with homozygous GoF variants in siblings with recurrent respiratory papillomatosis. Note gene is associated with multiple, mono- and bi-allelic immunological phenotypes.
Sources: Expert list
Susceptibility to Viral Infections v0.40 CIB1 Zornitza Stark Marked gene: CIB1 as ready
Susceptibility to Viral Infections v0.40 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.40 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Susceptibility to Viral Infections v0.40 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.39 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, MIM# 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: 24 individuals from six families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.38 SNORA31 Zornitza Stark Marked gene: SNORA31 as ready
Susceptibility to Viral Infections v0.38 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.38 SNORA31 Zornitza Stark Phenotypes for gene: SNORA31 were changed from Susceptibility to herpes simplex encephalitis to Susceptibility to HSV1 encephalitis
Susceptibility to Viral Infections v0.37 SNORA31 Zornitza Stark Classified gene: SNORA31 as Green List (high evidence)
Susceptibility to Viral Infections v0.37 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.36 SNORA31 Zornitza Stark gene: SNORA31 was added
gene: SNORA31 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNORA31 were set to 31806906
Phenotypes for gene: SNORA31 were set to Susceptibility to herpes simplex encephalitis
Review for gene: SNORA31 was set to GREEN
Added comment: Five unrelated individuals reported with rare missense variants in this gene, functional data to support susceptibility to herpes simplex encephalitis.
Sources: Expert list
Susceptibility to Viral Infections v0.35 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Susceptibility to Viral Infections v0.33 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Susceptibility to Viral Infections v0.32 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.31 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Susceptibility to Viral Infections v0.31 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.30 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Susceptibility to Viral Infections v0.29 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Susceptibility to Viral Infections v0.28 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.27 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.27 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.26 IRF7 Zornitza Stark reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Susceptibility to Viral Infections v0.25 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Susceptibility to Viral Infections v0.24 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.23 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.23 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.22 FCGR3A Zornitza Stark reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 8874200, 23006327, 8608639; Phenotypes: Immunodeficiency 20, MIM# 615707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Marked gene: DBR1 as ready
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Classified gene: DBR1 as Green List (high evidence)
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.21 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 29474921
Phenotypes for gene: DBR1 were set to Viral infections of the brainstem
Review for gene: DBR1 was set to GREEN
Added comment: Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Sources: Expert list
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark Marked gene: POLR3F as ready
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark Gene: polr3f has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark gene: POLR3F was added
gene: POLR3F was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3F were set to 30211253
Phenotypes for gene: POLR3F were set to Severe VZV infection
Review for gene: POLR3F was set to RED
Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Susceptibility to Viral Infections v0.19 POLR3C Zornitza Stark Classified gene: POLR3C as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.19 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.18 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Gene: polr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Classified gene: POLR3A as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Gene: polr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.16 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3A were set to 28783042; 29728610
Phenotypes for gene: POLR3A were set to Severe VZV infection
Review for gene: POLR3A was set to AMBER
Added comment: Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported.
Sources: Expert list
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.14 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IFIH1 were set to 28716935; 29018476
Phenotypes for gene: IFIH1 were set to Severe viral respiratory infections; Rhinovirus and other RNA viruses
Review for gene: IFIH1 was set to GREEN
Added comment: Three unrelated individuals with mono allelic LoF variants reported from a cohort of children admitted to ICU with severe respiratory infections (PMID:28716935). Another individual with bi-allelic variants and recurrent and prolonged infections also reported (PMID: 29018476)
Sources: Expert list
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark Marked gene: IFNAR2 as ready
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark gene: IFNAR2 was added
gene: IFNAR2 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR2 were set to 26424569
Phenotypes for gene: IFNAR2 were set to Immunodeficiency 45, MIM# 616669
Review for gene: IFNAR2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Marked gene: IFNAR1 as ready
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.11 IFNAR1 Zornitza Stark gene: IFNAR1 was added
gene: IFNAR1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247
Phenotypes for gene: IFNAR1 were set to Severe disease caused by Yellow Fever vaccine and Measles vaccine
Review for gene: IFNAR1 was set to AMBER
Added comment: Two unrelated individuals reported with bi-allelic LoF variants, some functional data.
Sources: Expert list
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Marked gene: IRF9 as ready
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Classified gene: IRF9 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.9 IRF9 Zornitza Stark gene: IRF9 was added
gene: IRF9 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF9 were set to 30826365; 30143481
Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections 618648
Review for gene: IRF9 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.8 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Susceptibility to Viral Infections v0.7 Sebastian Lunke Panel name changed from Susceptibility to viral infections_MelbourneGenomics_VCGS to Susceptibility to Viral Infections
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Marked gene: MSN as ready
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Classified gene: MSN as Green List (high evidence)
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.5 MSN Zornitza Stark gene: MSN was added
gene: MSN was added to Susceptibility to viral infections_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MSN were set to 27405666
Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988
Review for gene: MSN was set to GREEN
Added comment: Seven males from five unrelated families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Marked gene: IRF3 as ready
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Classified gene: IRF3 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.3 IRF3 Zornitza Stark gene: IRF3 was added
gene: IRF3 was added to Susceptibility to viral infections_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: IRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF3 were set to 26216125; 20660188; 26513235
Phenotypes for gene: IRF3 were set to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532
Penetrance for gene: IRF3 were set to Incomplete
Review for gene: IRF3 was set to AMBER
Added comment: Two affected individuals reported, reduced penetrance, mouse model.
Sources: Expert list
Susceptibility to Viral Infections v0.1 Zornitza Stark Panel name changed from Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS to Susceptibility to viral infections_MelbourneGenomics_VCGS
Susceptibility to Viral Infections v0.0 UNC93B1 Zornitza Stark gene: UNC93B1 was added
gene: UNC93B1 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: UNC93B1 was set to Unknown
Susceptibility to Viral Infections v0.0 TRAF3 Zornitza Stark gene: TRAF3 was added
gene: TRAF3 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TRAF3 was set to Unknown
Susceptibility to Viral Infections v0.0 TMC8 Zornitza Stark gene: TMC8 was added
gene: TMC8 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TMC8 was set to Unknown
Susceptibility to Viral Infections v0.0 TMC6 Zornitza Stark gene: TMC6 was added
gene: TMC6 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TMC6 was set to Unknown
Susceptibility to Viral Infections v0.0 TLR3 Zornitza Stark gene: TLR3 was added
gene: TLR3 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TLR3 was set to Unknown
Susceptibility to Viral Infections v0.0 TICAM1 Zornitza Stark gene: TICAM1 was added
gene: TICAM1 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TICAM1 was set to Unknown
Susceptibility to Viral Infections v0.0 TBK1 Zornitza Stark gene: TBK1 was added
gene: TBK1 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TBK1 was set to Unknown
Susceptibility to Viral Infections v0.0 STAT2 Zornitza Stark gene: STAT2 was added
gene: STAT2 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STAT2 was set to Unknown
Susceptibility to Viral Infections v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STAT1 was set to Unknown
Susceptibility to Viral Infections v0.0 IRF7 Zornitza Stark gene: IRF7 was added
gene: IRF7 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IRF7 was set to Unknown
Susceptibility to Viral Infections v0.0 FCGR3A Zornitza Stark gene: FCGR3A was added
gene: FCGR3A was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FCGR3A was set to Unknown
Susceptibility to Viral Infections v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CXCR4 was set to Unknown
Susceptibility to Viral Infections v0.0 Zornitza Stark Added panel Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS