| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Susceptibility to Viral Infections v1.10 | DOCK2 | Zornitza Stark Phenotypes for gene: DOCK2 were changed from Inborn error of immunity, MONDO:0003778, DOC2-related to Inborn error of immunity, MONDO:0003778, DOCK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark edited their review of gene: DOCK2: Changed phenotypes: Inborn error of immunity, MONDO:0003778, DOCK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark Marked gene: DOCK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark Classified gene: DOCK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.8 | DOCK2 |
Zornitza Stark gene: DOCK2 was added gene: DOCK2 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: DOCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DOCK2 were set to 41654261 Phenotypes for gene: DOCK2 were set to Inborn error of immunity, MONDO:0003778, DOC2-related Review for gene: DOCK2 was set to GREEN Added comment: Six individuals from three unrelated families, aged 3 months to 50 years, reported with one of three heterozygous variants in DOCK2 and severe infections with human papilloma virus, respiratory syncytial virus, or SARS-CoV-2. All variants reside within the DOCK2 domain that binds and stabilizes ELMO1. Each variant reduced DOCK2 protein expression, ELMO1 binding, and DOCK2 function, as shown by diminished Rac1 activation and selective defects in Toll-like receptor signaling. Weekly IFN-α therapy led to complete resolution of refractory warts in one patient, highlighting a potential therapeutic approach for DOCK2-associated immunodeficiency. Sources: Literature |
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| Susceptibility to Viral Infections v1.7 | IL18BP | Zornitza Stark Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to} 618549 to {Hepatitis, fulminant viral, susceptibility to} 618549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.6 | IL18BP | Zornitza Stark Publications for gene: IL18BP were set to 31213488 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.5 | IL18BP | Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.5 | IL18BP | Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.4 | IL18BP | Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 31213488, 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.4 | OAS2 | Zornitza Stark Phenotypes for gene: OAS2 were changed from Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related to Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.3 | OAS2 | Zornitza Stark edited their review of gene: OAS2: Changed phenotypes: Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.3 | IL27RA | Zornitza Stark Phenotypes for gene: IL27RA were changed from Epstein-Barr virus infection MONDO:0005111 , IL27RA-related to Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.2 | IL27RA | Zornitza Stark reviewed gene: IL27RA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.2 | IRF3 | Bryony Thompson Publications for gene: IRF3 were set to 26216125; 20660188; 26513235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.1 | IRF3 | Bryony Thompson reviewed gene: IRF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32972995, 38665565, 33386334, 41065760, 26216125, 26513235; Phenotypes: Inborn error of immunity MONDO:0003778; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.1 | TAOK2 | Zornitza Stark Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation to Inborn error of immunity, MONDO:0003778, TAOK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.0 | TAOK2 | Zornitza Stark reviewed gene: TAOK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, TAOK2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.133 | STAT2 | Bryony Thompson Phenotypes for gene: STAT2 were changed from to Susceptibility to viral disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.132 | STAT2 | Bryony Thompson Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.131 | SNORA31 | Zornitza Stark Tag non-coding gene tag was added to gene: SNORA31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.131 | NFATC2 | Bryony Thompson Publications for gene: NFATC2 were set to PMID: 38427060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.130 | NFATC2 | Bryony Thompson Classified gene: NFATC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.130 | NFATC2 | Bryony Thompson Gene: nfatc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.129 | NFATC2 | Bryony Thompson reviewed gene: NFATC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35789258, 38427060; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.129 | TNFSF9 |
Zornitza Stark changed review comment from: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection. They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells. Sources: Literature; to: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense variant (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection. They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells. Sources: Literature |
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| Susceptibility to Viral Infections v0.129 | TNFSF9 | Zornitza Stark Marked gene: TNFSF9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.129 | TNFSF9 | Zornitza Stark Gene: tnfsf9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.129 | TNFSF9 |
Zornitza Stark gene: TNFSF9 was added gene: TNFSF9 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFSF9 were set to 35657354 Phenotypes for gene: TNFSF9 were set to Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related Review for gene: TNFSF9 was set to RED Added comment: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection. They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells. Sources: Literature |
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| Susceptibility to Viral Infections v0.128 | TMEFF1 | Zornitza Stark Marked gene: TMEFF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.128 | TMEFF1 | Zornitza Stark Gene: tmeff1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.128 | TMEFF1 | Zornitza Stark Phenotypes for gene: TMEFF1 were changed from hsv encephalitis to Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related; HSV encephalitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.127 | TMEFF1 | Zornitza Stark Classified gene: TMEFF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.127 | TMEFF1 | Zornitza Stark Gene: tmeff1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.126 | TMEFF1 | Zornitza Stark reviewed gene: TMEFF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.126 | TMEFF1 |
Peter McNaughton gene: TMEFF1 was added gene: TMEFF1 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: TMEFF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEFF1 were set to PMID: 39048830 Phenotypes for gene: TMEFF1 were set to hsv encephalitis Review for gene: TMEFF1 was set to GREEN Added comment: 2 unrelated patients with severe HSV encephalitis. Functional validation showing that human TMEFF1 encodes a type I IFN-independent, cortical neuron- and CNS-intrinsic restriction factor that is effective against HSV-1 that operates by impairing the entry of HSV-1 into cortical neurons. Sources: Literature |
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| Susceptibility to Viral Infections v0.126 | RNASEL | Zornitza Stark Marked gene: RNASEL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.126 | RNASEL | Zornitza Stark Gene: rnasel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.126 | RNASEL | Zornitza Stark Phenotypes for gene: RNASEL were changed from MIS-C to Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.125 | RNASEL | Zornitza Stark Classified gene: RNASEL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.125 | RNASEL | Zornitza Stark Gene: rnasel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.124 | RNASEL | Zornitza Stark reviewed gene: RNASEL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.124 | OAS2 | Zornitza Stark Marked gene: OAS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.124 | OAS2 | Zornitza Stark Gene: oas2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.124 | OAS2 | Zornitza Stark Phenotypes for gene: OAS2 were changed from MIS-C to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.123 | OAS2 | Zornitza Stark Classified gene: OAS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.123 | OAS2 | Zornitza Stark Gene: oas2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.122 | OAS2 | Zornitza Stark reviewed gene: OAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36538032; Phenotypes: Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.122 | NFATC2 | Zornitza Stark Marked gene: NFATC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.122 | NFATC2 | Zornitza Stark Gene: nfatc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.122 | NFATC2 | Zornitza Stark Phenotypes for gene: NFATC2 were changed from EBV associated lymphoproliferative disease to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.121 | NFATC2 | Zornitza Stark Classified gene: NFATC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.121 | NFATC2 | Zornitza Stark Gene: nfatc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.120 | NFATC2 | Zornitza Stark reviewed gene: NFATC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.120 | IKBKE | Zornitza Stark Marked gene: IKBKE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.120 | IKBKE | Zornitza Stark Gene: ikbke has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.120 | IKBKE | Zornitza Stark Phenotypes for gene: IKBKE were changed from Recurrent HSV encephalitis to Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.119 | IKBKE | Zornitza Stark Classified gene: IKBKE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.119 | IKBKE | Zornitza Stark Gene: ikbke has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.118 | IKBKE | Zornitza Stark reviewed gene: IKBKE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.118 | CD28 | Zornitza Stark Phenotypes for gene: CD28 were changed from Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.118 | 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 Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.117 | CD28 | Zornitza Stark edited their review of gene: CD28: Changed phenotypes: Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.117 | IKBKE |
Peter McNaughton gene: IKBKE was added gene: IKBKE was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKBKE were set to PMID: 37937644 Phenotypes for gene: IKBKE were set to Recurrent HSV encephalitis Review for gene: IKBKE was set to AMBER Added comment: Single patient with recurrent HSV meningitis with supportive functional data. Sources: Literature |
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| Susceptibility to Viral Infections v0.117 | RNASEL |
Peter McNaughton gene: RNASEL was added gene: RNASEL was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: RNASEL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEL were set to PMID: 36538032 Phenotypes for gene: RNASEL were set to MIS-C Review for gene: RNASEL was set to AMBER Added comment: Single patient presenting with similar presentation and functional findings to OAS1 and OAS2 Sources: Literature |
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| Susceptibility to Viral Infections v0.117 | OAS2 |
Peter McNaughton gene: OAS2 was added gene: OAS2 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: OAS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAS2 were set to PMID: 36538032 Phenotypes for gene: OAS2 were set to MIS-C Review for gene: OAS2 was set to GREEN Added comment: 3x unrelated patients with MIS-C after COVID infection. Patients displayed excessive inflammatory responses to intracellular dsRNA, SARS-CoV-2, SARS-CoV-2–infected cells, and their RNA, providing a plausible mechanism for MIS-C. Similar presentation to OAS1 and RNASEL. Sources: Literature |
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| Susceptibility to Viral Infections v0.117 | NFATC2 |
Peter McNaughton gene: NFATC2 was added gene: NFATC2 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC2 were set to PMID: 38427060 Phenotypes for gene: NFATC2 were set to EBV associated lymphoproliferative disease Review for gene: NFATC2 was set to RED Added comment: 12yo girl born to consanguineous parents with EBV associated lymphoproliferation. Initially presented with recurrent chest infections, lung deterioration, chronic wet cough and failure to thrive at the age of 9 and severe hypogammaglobulinaemia. Her elder brother died of lymphoma when he was 5 years old, otherwise family history was unremarkable. Sources: Literature |
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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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Susceptibility to Viral Infections v0.0 | Zornitza Stark Added panel Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||