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Defects of intrinsic and innate immunity v1.19 Bryony Thompson Panel name changed from Defects of innate immunity to Defects of intrinsic and innate immunity
Defects of intrinsic and innate immunity v1.17 ZNFX1 Bryony Thompson Classified gene: ZNFX1 as Green List (high evidence)
Defects of intrinsic and innate immunity v1.17 ZNFX1 Bryony Thompson Gene: znfx1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.16 ZNFX1 Bryony Thompson gene: ZNFX1 was added
gene: ZNFX1 was added to Defects of innate immunity. Sources: Expert list
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 immunodeficiency 91 and hyperinflammation MONDO:0030491
Defects of intrinsic and innate immunity v1.15 TLR8 Bryony Thompson Marked gene: TLR8 as ready
Defects of intrinsic and innate immunity v1.15 TLR8 Bryony Thompson Gene: tlr8 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.15 TLR8 Bryony Thompson Classified gene: TLR8 as Green List (high evidence)
Defects of intrinsic and innate immunity v1.15 TLR8 Bryony Thompson Gene: tlr8 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.14 TLR8 Bryony Thompson gene: TLR8 was added
gene: TLR8 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 33512449; 34981838
Phenotypes for gene: TLR8 were set to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Mode of pathogenicity for gene: TLR8 was set to Other
Review for gene: TLR8 was set to GREEN
gene: TLR8 was marked as current diagnostic
Added comment: TLR signaling pathway deficiency with bacterial susceptibility. Mainly mosaic and gain of function is mechanism of disease
Sources: Expert list
Defects of intrinsic and innate immunity v1.13 POLR3F Bryony Thompson gene: POLR3F was added
gene: POLR3F was added to Defects of innate immunity. 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 Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Defects of intrinsic and innate immunity v1.12 POLR3C Bryony Thompson Classified gene: POLR3C as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v1.12 POLR3C Bryony Thompson Gene: polr3c has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.11 POLR3C Bryony Thompson gene: POLR3C was added
gene: POLR3C was added to Defects of innate immunity. 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 varicella zoster infection MONDO:0005608
Defects of intrinsic and innate immunity v1.10 POLR3A Bryony Thompson Classified gene: POLR3A as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v1.10 POLR3A Bryony Thompson Gene: polr3a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.9 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Defects of innate immunity. 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 varicella zoster infection MONDO:0005608
Defects of intrinsic and innate immunity v1.8 IRF3 Bryony Thompson Classified gene: IRF3 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v1.8 IRF3 Bryony Thompson Gene: irf3 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.7 IRF3 Bryony Thompson gene: IRF3 was added
gene: IRF3 was added to Defects of innate immunity. 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 encephalitis, acute, infection-induced, susceptibility to MONDO:0800174
Defects of intrinsic and innate immunity v1.6 IFNG Bryony Thompson Marked gene: IFNG as ready
Defects of intrinsic and innate immunity v1.6 IFNG Bryony Thompson Gene: ifng has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.6 IFNG Bryony Thompson Classified gene: IFNG as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v1.6 IFNG Bryony Thompson Gene: ifng has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.5 IFNG Bryony Thompson gene: IFNG was added
gene: IFNG was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNG were set to 32163377; 38363432
Phenotypes for gene: IFNG were set to inherited susceptibility to mycobacterial diseases MONDO:0019146
Review for gene: IFNG was set to AMBER
Added comment: Now 2 unrelated homozygous cases reported with some supporting functional assays.
Sources: Expert list
Defects of intrinsic and innate immunity v1.4 IFNAR2 Bryony Thompson Classified gene: IFNAR2 as Green List (high evidence)
Defects of intrinsic and innate immunity v1.4 IFNAR2 Bryony Thompson Gene: ifnar2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.3 IFNAR2 Bryony Thompson gene: IFNAR2 was added
gene: IFNAR2 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR2 were set to 35442417; 26424569
Phenotypes for gene: IFNAR2 were set to immunodeficiency 45 MONDO:0014727
Defects of intrinsic and innate immunity v1.2 IFNAR1 Bryony Thompson Classified gene: IFNAR1 as Green List (high evidence)
Defects of intrinsic and innate immunity v1.2 IFNAR1 Bryony Thompson Gene: ifnar1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.1 IFNAR1 Bryony Thompson gene: IFNAR1 was added
gene: IFNAR1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 35442418; 31270247
Phenotypes for gene: IFNAR1 were set to immunodeficiency 106, susceptibility to viral infections MONDO:0030970
Review for gene: IFNAR1 was set to GREEN
gene: IFNAR1 was marked as current diagnostic
Added comment: Severe disease caused by Yellow Fever vaccine and Measles vaccine, severe COVID-19.
Sources: Expert list
Defects of intrinsic and innate immunity v1.0 Bryony Thompson promoted panel to version 1.0
Defects of intrinsic and innate immunity v0.184 Bryony Thompson Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Defects of intrinsic and innate immunity v0.181 TLR7 Bryony Thompson Marked gene: TLR7 as ready
Defects of intrinsic and innate immunity v0.181 TLR7 Bryony Thompson Gene: tlr7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.181 TLR7 Bryony Thompson Classified gene: TLR7 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.181 TLR7 Bryony Thompson Gene: tlr7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.180 TLR7 Bryony Thompson gene: TLR7 was added
gene: TLR7 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR7 were set to 32706371; 35708626
Phenotypes for gene: TLR7 were set to Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767
Review for gene: TLR7 was set to GREEN
Added comment: At least 7 families with affected hemizygous males. IUIS IEI committee categorise gene under Predisposition to Severe Viral Infection.
Sources: Expert list
Defects of intrinsic and innate immunity v0.179 TLR4 Bryony Thompson Marked gene: TLR4 as ready
Defects of intrinsic and innate immunity v0.179 TLR4 Bryony Thompson Gene: tlr4 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.179 TLR4 Bryony Thompson gene: TLR4 was added
gene: TLR4 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TLR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TLR4 were set to 32042729; 31442584
Phenotypes for gene: TLR4 were set to Inflammatory bowel disease MONDO:0005265
Review for gene: TLR4 was set to RED
Added comment: The IUIS IEI committee has this gene listed as a cause of inflammatory bowel disease under the TLR Signaling Pathway Deficiency categorisation, but I cannot find any reports of Mendelian disease. There are knockout mouse models with ulcerative colitis.
Sources: Expert list
Defects of intrinsic and innate immunity v0.178 SNORA31 Bryony Thompson Classified gene: SNORA31 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.178 SNORA31 Bryony Thompson Gene: snora31 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.177 SNORA31 Bryony Thompson gene: SNORA31 was added
gene: SNORA31 was added to Defects of innate immunity. 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 encephalitis, acute, infection-induced, susceptibility to MONDO:0800174
Defects of intrinsic and innate immunity v0.176 RNASEL Bryony Thompson Marked gene: RNASEL as ready
Defects of intrinsic and innate immunity v0.176 RNASEL Bryony Thompson Gene: rnasel has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.176 RNASEL Bryony Thompson Classified gene: RNASEL as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.176 RNASEL Bryony Thompson Gene: rnasel has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.175 RNASEL Bryony Thompson gene: RNASEL was added
gene: RNASEL was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: RNASEL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEL were set to 36538032; 9351818
Phenotypes for gene: RNASEL were set to Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related
Review for gene: RNASEL was set to AMBER
Added comment: A single case reported with a homozygous variant reported and a supporting null mouse model.
Sources: Expert list
Defects of intrinsic and innate immunity v0.174 RIPK3 Bryony Thompson Classified gene: RIPK3 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.174 RIPK3 Bryony Thompson Gene: ripk3 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.173 RIPK3 Bryony Thompson gene: RIPK3 was added
gene: RIPK3 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: RIPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK3 were set to 37083451
Phenotypes for gene: RIPK3 were set to Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related
Defects of intrinsic and innate immunity v0.172 OAS2 Bryony Thompson Classified gene: OAS2 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.172 OAS2 Bryony Thompson Gene: oas2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.171 OAS2 Bryony Thompson gene: OAS2 was added
gene: OAS2 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: OAS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAS2 were set to 36538032
Phenotypes for gene: OAS2 were set to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related
Defects of intrinsic and innate immunity v0.170 OAS1 Bryony Thompson Marked gene: OAS1 as ready
Defects of intrinsic and innate immunity v0.170 OAS1 Bryony Thompson Gene: oas1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.170 OAS1 Bryony Thompson gene: OAS1 was added
gene: OAS1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: OAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAS1 were set to 36538032
Phenotypes for gene: OAS1 were set to Multisystem inflammatory syndrome in children and adults MONDO:0035375
Review for gene: OAS1 was set to RED
Added comment: A single case with MIS-C with a homozygous LoF (p.Arg47*) variant and a supporting in vitro functional assay.
Sources: Expert list
Defects of intrinsic and innate immunity v0.169 NOS2 Bryony Thompson gene: NOS2 was added
gene: NOS2 was added to Defects of innate immunity. 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 inborn error of immunity MONDO:0003778
Defects of intrinsic and innate immunity v0.168 LY96 Bryony Thompson Marked gene: LY96 as ready
Defects of intrinsic and innate immunity v0.168 LY96 Bryony Thompson Gene: ly96 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.168 LY96 Bryony Thompson gene: LY96 was added
gene: LY96 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LY96 were set to 36462957
Phenotypes for gene: LY96 were set to Inborn error of immunity, MONDO:0003778, LY96-related
Review for gene: LY96 was set to RED
Added comment: Only a single family reported. The IUIS IEI committee categorises this gene as TLR Signaling Pathway Deficiency.
Sources: Expert list
Defects of intrinsic and innate immunity v0.167 IRF9 Bryony Thompson Classified gene: IRF9 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.167 IRF9 Bryony Thompson Gene: irf9 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.166 IRF9 Bryony Thompson gene: IRF9 was added
gene: IRF9 was added to Defects of innate immunity. 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 MONDO:0032848
Defects of intrinsic and innate immunity v0.165 IRF4 Bryony Thompson Classified gene: IRF4 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.165 IRF4 Bryony Thompson Gene: irf4 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.164 IRF4 Bryony Thompson gene: IRF4 was added
gene: IRF4 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF4 were set to 36662884, 36917008, 29537367, 29408330
Phenotypes for gene: IRF4 were set to combined immunodeficiency MONDO:0015131
Review for gene: IRF4 was set to GREEN
gene: IRF4 was marked as current diagnostic
Added comment: IRF4 is a transcription factor involved in the regulation of innate immunity. Definitive gene-disease association - https://search.clinicalgenome.org/CCID:008358. The IUIS IEI committee categorises this gene as other inborn errors of immunity related to leukocytes.
Sources: Expert list
Defects of intrinsic and innate immunity v0.163 IL18BP Bryony Thompson gene: IL18BP was added
gene: IL18BP was added to Defects of innate immunity. 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
Defects of intrinsic and innate immunity v0.162 IKBKE Bryony Thompson Marked gene: IKBKE as ready
Defects of intrinsic and innate immunity v0.162 IKBKE Bryony Thompson Gene: ikbke has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.162 IKBKE Bryony Thompson Classified gene: IKBKE as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.162 IKBKE Bryony Thompson Gene: ikbke has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.160 IKBKE Bryony Thompson gene: IKBKE was added
gene: IKBKE was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKBKE were set to 37937644
Phenotypes for gene: IKBKE were set to Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related
Defects of intrinsic and innate immunity v0.159 IFIH1 Bryony Thompson Marked gene: IFIH1 as ready
Defects of intrinsic and innate immunity v0.159 IFIH1 Bryony Thompson Gene: ifih1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.159 IFIH1 Bryony Thompson Classified gene: IFIH1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.159 IFIH1 Bryony Thompson Gene: ifih1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.158 IFIH1 Bryony Thompson gene: IFIH1 was added
gene: IFIH1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFIH1 were set to 28606988; 29018476; 28716935; 34185153
Phenotypes for gene: IFIH1 were set to Immunodeficiency 95 MIM#619773
Review for gene: IFIH1 was set to GREEN
Added comment: Biallelic loss of function variants cause a predisposition to severe viral infections. IUIS IEI committee classify the condition as a defect in intrinsic and innate immunity.
Sources: Expert list
Defects of intrinsic and innate immunity v0.157 GTF3A Bryony Thompson Marked gene: GTF3A as ready
Defects of intrinsic and innate immunity v0.157 GTF3A Bryony Thompson Gene: gtf3a has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.157 GTF3A Bryony Thompson gene: GTF3A was added
gene: GTF3A was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: GTF3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3A were set to 36399538
Phenotypes for gene: GTF3A were set to herpes simplex encephalitis MONDO:0012521
Review for gene: GTF3A was set to RED
Added comment: A single case is reported with common variable immunodeficiency and HSE, and some supporting functional assays.
Sources: Expert list
Defects of intrinsic and innate immunity v0.156 DBR1 Bryony Thompson Marked gene: DBR1 as ready
Defects of intrinsic and innate immunity v0.156 DBR1 Bryony Thompson Gene: dbr1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.156 DBR1 Bryony Thompson Classified gene: DBR1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.156 DBR1 Bryony Thompson Gene: dbr1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.155 DBR1 Bryony Thompson gene: DBR1 was added
gene: DBR1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 39023559; 29474921
Phenotypes for gene: DBR1 were set to encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334
Review for gene: DBR1 was set to GREEN
gene: DBR1 was marked as current diagnostic
Added comment: IUIS IEI committee classification as a defect in innate and intrinsic immunity in the subcategory of herpes simplex encephalitis. At least 4 families reported.
Sources: Expert list
Defects of intrinsic and innate immunity v0.154 MCTS1 Bryony Thompson Marked gene: MCTS1 as ready
Defects of intrinsic and innate immunity v0.154 MCTS1 Bryony Thompson Gene: mcts1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.154 MCTS1 Bryony Thompson Phenotypes for gene: MCTS1 were changed from to Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related
Defects of intrinsic and innate immunity v0.153 MCTS1 Bryony Thompson Publications for gene: MCTS1 were set to
Defects of intrinsic and innate immunity v0.152 MCTS1 Bryony Thompson Classified gene: MCTS1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.152 MCTS1 Bryony Thompson Gene: mcts1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.151 MAPK8 Bryony Thompson Marked gene: MAPK8 as ready
Defects of intrinsic and innate immunity v0.151 MAPK8 Bryony Thompson Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.151 MAPK8 Bryony Thompson Phenotypes for gene: MAPK8 were changed from to Chronic mucocutaneous candidiasis; Connective tissue disorders
Defects of intrinsic and innate immunity v0.150 MAPK8 Bryony Thompson Publications for gene: MAPK8 were set to
Defects of intrinsic and innate immunity v0.149 MAPK8 Bryony Thompson Classified gene: MAPK8 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.149 MAPK8 Bryony Thompson Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.148 IRF1 Bryony Thompson Marked gene: IRF1 as ready
Defects of intrinsic and innate immunity v0.148 IRF1 Bryony Thompson Gene: irf1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.148 IRF1 Bryony Thompson Phenotypes for gene: IRF1 were changed from to Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668
Defects of intrinsic and innate immunity v0.147 IRF1 Bryony Thompson Publications for gene: IRF1 were set to
Defects of intrinsic and innate immunity v0.146 IRF1 Bryony Thompson Classified gene: IRF1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.146 IRF1 Bryony Thompson Gene: irf1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.144 IRF1 Bryony Thompson gene: IRF1 was added
gene: IRF1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.143 MAPK8 Bryony Thompson gene: MAPK8 was added
gene: MAPK8 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.142 MCTS1 Bryony Thompson gene: MCTS1 was added
gene: MCTS1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson Marked gene: ATG4A as ready
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson Gene: atg4a has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson changed review comment from: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile).
Sources: Expert list; to: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile). Classified as a defect of intrinsic and innate immunity by IUIS and included on their list of IEIs.
Sources: Expert list
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson gene: ATG4A was added
gene: ATG4A was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: ATG4A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ATG4A were set to 33310865
Phenotypes for gene: ATG4A were set to infectious meningitis MONDO:0004796
Review for gene: ATG4A was set to RED
Added comment: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile).
Sources: Expert list
Defects of intrinsic and innate immunity v0.140 APOL1 Bryony Thompson Classified gene: APOL1 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.140 APOL1 Bryony Thompson Added comment: Comment on list classification: Included on the IUIS inborn errors of immunity
Defects of intrinsic and innate immunity v0.140 APOL1 Bryony Thompson Gene: apol1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.139 IRAK2 Zornitza Stark Marked gene: IRAK2 as ready
Defects of intrinsic and innate immunity v0.139 IRAK2 Zornitza Stark Gene: irak2 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.139 IRAK2 Zornitza Stark Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, MONDO:0957790, IRAK2-related
Defects of intrinsic and innate immunity v0.138 IRAK2 Zornitza Stark reviewed gene: IRAK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, MONDO:0957790, IRAK2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.138 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, no OMIM #
Defects of intrinsic and innate immunity v0.138 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, no OMIM #
Defects of intrinsic and innate immunity v0.137 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, no OMIM #
Defects of intrinsic and innate immunity v0.136 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from to Immune dysregulation, no OMIM #
Defects of intrinsic and innate immunity v0.135 IRAK2 Chirag Patel changed review comment from: 2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported.

Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens).

Paper does not comment on reasons for disease in biallelic and mono-allelic form.
Sources: Literature; to: PMID: 39299377
2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported. Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens). Paper does not comment on reasons for disease in biallelic and mono-allelic form.


Preprint paper:
2 individuals with immune dysregulation (1 x systemic lupus erythematosus and 1 x autoinflammatory disease) with same homozgyous exon 2 deletion in IRAK2 gene found on WES testing and confirmed with Sanger sequencing. Unaffected family members in trio were heterozygous for variant. Exon 2 encodes a proportion of the death domain, a critical protein domain for Myddosome assembly.

The patients exhibited aberrantly upregulated type I interferon (IFN) response following LPS stimulation, which was further confirmed in bone marrow-derived macrophages (BMDMs) in mice. RNA sequencing analysis indicated that PBMCs from the two patients consistently exhibited defects in activating NFkb signaling in response to LPS or R848 stimulation, as well as impaired activation of the MAPK signaling pathway. RNA sequencing demonstrated that BMDMs from Irak2 ∆ex2/∆ex2 mice exhibited defects in NFkb and MAPK signaling pathways, similar to patients’ PBMCs.
Defects of intrinsic and innate immunity v0.135 IRAK2 Chirag Patel edited their review of gene: IRAK2: Changed phenotypes: Immunodeficiency, no OMIM #
Defects of intrinsic and innate immunity v0.135 IRAK2 Chirag Patel gene: IRAK2 was added
gene: IRAK2 was added to Defects of innate immunity. Sources: Literature
Mode of inheritance for gene: IRAK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IRAK2 were set to PMID: 39299377
Review for gene: IRAK2 was set to RED
Added comment: 2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported.

Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens).

Paper does not comment on reasons for disease in biallelic and mono-allelic form.
Sources: Literature
Defects of intrinsic and innate immunity v0.134 MAP1LC3B2 Zornitza Stark Marked gene: MAP1LC3B2 as ready
Defects of intrinsic and innate immunity v0.134 MAP1LC3B2 Zornitza Stark Gene: map1lc3b2 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.134 MAP1LC3B2 Zornitza Stark Phenotypes for gene: MAP1LC3B2 were changed from Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2 to Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related; Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2
Defects of intrinsic and innate immunity v0.133 MAP1LC3B2 Zornitza Stark Classified gene: MAP1LC3B2 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.133 MAP1LC3B2 Zornitza Stark Gene: map1lc3b2 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.132 MAP1LC3B2 Sangavi Sivagnanasundram gene: MAP1LC3B2 was added
gene: MAP1LC3B2 was added to Defects of innate immunity. Sources: Other
Mode of inheritance for gene: MAP1LC3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1LC3B2 were set to 35748970; 33310865
Phenotypes for gene: MAP1LC3B2 were set to Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2
Review for gene: MAP1LC3B2 was set to RED
Added comment: Reviewed from PMID: 35748970

No published gene-disease association as of yet.

Affects CNS (resident cells and fibroblasts)
Impaired autophagy induction after HSV2 infection - increased viral replication and apoptosis of patient fibroblasts.

PMID: 33310865
one affected individual with heterozygous mutation in MAP1LC3B2 (p.L109M)
Sources: Other
Defects of intrinsic and innate immunity v0.132 HMOX1 Zornitza Stark Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238
Defects of intrinsic and innate immunity v0.131 HMOX1 Zornitza Stark Classified gene: HMOX1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.131 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.130 HMOX1 Achchuthan Shanmugasundram reviewed gene: HMOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33066778; Phenotypes: Heme oxygenase-1 deficiency, OMIM:614034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.130 CASP4 Zornitza Stark Marked gene: CASP4 as ready
Defects of intrinsic and innate immunity v0.130 CASP4 Zornitza Stark Gene: casp4 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.130 CASP4 Zornitza Stark Phenotypes for gene: CASP4 were changed from Susceptibility to meliodiosis to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis
Defects of intrinsic and innate immunity v0.129 CASP4 Zornitza Stark Classified gene: CASP4 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.129 CASP4 Zornitza Stark Gene: casp4 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.128 CASP4 Peter McNaughton gene: CASP4 was added
gene: CASP4 was added to Defects of innate immunity. Sources: Literature
Mode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP4 were set to PMID: 37647624
Phenotypes for gene: CASP4 were set to Susceptibility to meliodiosis
Review for gene: CASP4 was set to RED
Added comment: Single patient with severe disease secondary to B. pseudomallei requiring ECMO. Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support.
Novel homozygous missense mutation in CASP4, at exon 7 c.1030C > T. Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B. Cloned cells show impacts on CASP4 activation and pyroptosis.
Sources: Literature
Defects of intrinsic and innate immunity v0.128 Zornitza Stark HPO terms changed from to Unusual infections, HP:0032101
List of related panels changed from to Unusual infections; HP:0032101
Defects of intrinsic and innate immunity v0.127 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.127 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.126 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
Defects of intrinsic and innate immunity v0.126 TMC6 Peter McNaughton reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12426567, PMID 15042430; Phenotypes: Epidermodysplasia veruciformis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TLR3 Peter McNaughton reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17872438, PMID: 25339207; Phenotypes: Susceptibility to viral disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TICAM1 Peter McNaughton reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22105173, 26513235; Phenotypes: Herpes encephalitis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TBK1 Peter McNaughton reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34363755, PMID: 22851595; Phenotypes: Autoinflammation, susceptibility to HSV; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 STAT2 Peter McNaughton reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34448086; Phenotypes: Susceptibility to viral disease, interferonopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 STAT1 Peter McNaughton reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 12590259, PMID: 16585605; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, Immunodeficiency 31C, autosomal dominant, MIM# 614162, Predisposition to Mucocutaneous Candidiasis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Marked gene: RORC as ready
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622
Defects of intrinsic and innate immunity v0.125 RORC Zornitza Stark Publications for gene: RORC were set to
Defects of intrinsic and innate immunity v0.124 RORC Zornitza Stark Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.123 RORC Zornitza Stark reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376; Phenotypes: Immunodeficiency 42, MIM# 616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.123 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Defects of intrinsic and innate immunity v0.123 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Marked gene: CYBB as ready
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease, X-linked, MIM# 306400
Defects of intrinsic and innate immunity v0.122 CYBB Zornitza Stark Publications for gene: CYBB were set to
Defects of intrinsic and innate immunity v0.121 CYBB Zornitza Stark Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome 1, MIM# 193670
Defects of intrinsic and innate immunity v0.119 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
Defects of intrinsic and innate immunity v0.118 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.117 IL23R Zornitza Stark Phenotypes for gene: IL23R were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease, MONDO:0021094; Susceptibility to mycobacteria and Salmonella
Defects of intrinsic and innate immunity v0.116 IL23R Zornitza Stark Publications for gene: IL23R were set to 30578351
Defects of intrinsic and innate immunity v0.115 IL23R Zornitza Stark Classified gene: IL23R as Green List (high evidence)
Defects of intrinsic and innate immunity v0.115 IL23R Zornitza Stark Gene: il23r has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.114 IL23R Peter McNaughton reviewed gene: IL23R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35829840; Phenotypes: Susceptibility to mycobacterial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.114 TBX21 Zornitza Stark Marked gene: TBX21 as ready
Defects of intrinsic and innate immunity v0.114 TBX21 Zornitza Stark Gene: tbx21 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.114 TBX21 Zornitza Stark Classified gene: TBX21 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.114 TBX21 Zornitza Stark Gene: tbx21 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.113 TBX21 Zornitza Stark Phenotypes for gene: TBX21 were changed from Susceptibility to mycobacterial disease to Immunodeficiency 88, MIM# 619630; Susceptibility to mycobacterial disease
Defects of intrinsic and innate immunity v0.112 TBX21 Peter McNaughton gene: TBX21 was added
gene: TBX21 was added to Defects of innate immunity. Sources: Literature
Mode of inheritance for gene: TBX21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX21 were set to PMID: 33296702; PMID: 34160550
Phenotypes for gene: TBX21 were set to Susceptibility to mycobacterial disease
Review for gene: TBX21 was set to AMBER
Added comment: Single patient with strong functional validation
Sources: Literature
Defects of intrinsic and innate immunity v0.112 TMC8 Zornitza Stark Marked gene: TMC8 as ready
Defects of intrinsic and innate immunity v0.112 TMC8 Zornitza Stark Gene: tmc8 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.112 TMC8 Zornitza Stark Phenotypes for gene: TMC8 were changed from to Epidermodysplasia verruciformis 2, MIM# 618231
Defects of intrinsic and innate immunity v0.111 TMC8 Zornitza Stark Publications for gene: TMC8 were set to
Defects of intrinsic and innate immunity v0.110 TMC8 Zornitza Stark Mode of inheritance for gene: TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.109 TMC8 Zornitza Stark reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34459021, 28646613, 12426567; Phenotypes: Epidermodysplasia verruciformis 2, MIM# 618231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.109 MYD88 Zornitza Stark Marked gene: MYD88 as ready
Defects of intrinsic and innate immunity v0.109 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.109 MYD88 Zornitza Stark Phenotypes for gene: MYD88 were changed from to Immunodeficiency 68, MIM# 612260
Defects of intrinsic and innate immunity v0.108 MYD88 Zornitza Stark Publications for gene: MYD88 were set to
Defects of intrinsic and innate immunity v0.107 MYD88 Zornitza Stark Mode of inheritance for gene: MYD88 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.106 MYD88 Zornitza Stark reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669862, 20538326, 31301515; Phenotypes: Immunodeficiency 68, MIM# 612260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.106 IL12B Zornitza Stark Marked gene: IL12B as ready
Defects of intrinsic and innate immunity v0.106 IL12B Zornitza Stark Gene: il12b has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.106 IL12B Zornitza Stark Phenotypes for gene: IL12B were changed from to Immunodeficiency 29, mycobacteriosis, MIM# 614890
Defects of intrinsic and innate immunity v0.105 IL12B Zornitza Stark Publications for gene: IL12B were set to
Defects of intrinsic and innate immunity v0.104 IL12B Zornitza Stark Mode of inheritance for gene: IL12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.103 IL12B Zornitza Stark reviewed gene: IL12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 9854038, 11753820, 34389021; Phenotypes: Immunodeficiency 29, mycobacteriosis, MIM# 614890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.103 IL12RB1 Zornitza Stark Marked gene: IL12RB1 as ready
Defects of intrinsic and innate immunity v0.103 IL12RB1 Zornitza Stark Gene: il12rb1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.103 IL12RB1 Zornitza Stark Phenotypes for gene: IL12RB1 were changed from to Immunodeficiency 30, MIM# 614891
Defects of intrinsic and innate immunity v0.102 IL12RB1 Zornitza Stark Publications for gene: IL12RB1 were set to
Defects of intrinsic and innate immunity v0.101 IL12RB1 Zornitza Stark Mode of inheritance for gene: IL12RB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.100 IL12RB1 Zornitza Stark reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9603733, 9603732, 12591909, 15736007, 23864330; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.100 ISG15 Zornitza Stark Marked gene: ISG15 as ready
Defects of intrinsic and innate immunity v0.100 ISG15 Zornitza Stark Gene: isg15 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.100 ISG15 Zornitza Stark Phenotypes for gene: ISG15 were changed from to Immunodeficiency 38, MIM# 616126
Defects of intrinsic and innate immunity v0.99 ISG15 Zornitza Stark Publications for gene: ISG15 were set to
Defects of intrinsic and innate immunity v0.98 ISG15 Zornitza Stark Mode of inheritance for gene: ISG15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.97 ISG15 Zornitza Stark reviewed gene: ISG15: Rating: GREEN; Mode of pathogenicity: None; Publications: 25307056, 22859821, 35258551, 32944031; Phenotypes: Immunodeficiency 38, MIM# 616126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.97 IRF8 Zornitza Stark Marked gene: IRF8 as ready
Defects of intrinsic and innate immunity v0.97 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.97 IRF8 Zornitza Stark Phenotypes for gene: IRF8 were changed from to Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Defects of intrinsic and innate immunity v0.96 IRF8 Zornitza Stark Publications for gene: IRF8 were set to
Defects of intrinsic and innate immunity v0.95 IRF8 Zornitza Stark Mode of inheritance for gene: IRF8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.94 IRF8 Zornitza Stark reviewed gene: IRF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21524210, 27893462, 29128673, 28162909, 25122610; Phenotypes: Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893, Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.94 IRAK4 Zornitza Stark Marked gene: IRAK4 as ready
Defects of intrinsic and innate immunity v0.94 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.94 IRAK4 Zornitza Stark Phenotypes for gene: IRAK4 were changed from to Immunodeficiency 67, MIM# 607676
Defects of intrinsic and innate immunity v0.93 IRAK4 Zornitza Stark Publications for gene: IRAK4 were set to
Defects of intrinsic and innate immunity v0.92 IRAK4 Zornitza Stark Mode of inheritance for gene: IRAK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.91 IRAK4 Zornitza Stark reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26825884, 17878374, 17544092, 16950813; Phenotypes: Immunodeficiency 67, MIM# 607676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.91 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Defects of intrinsic and innate immunity v0.91 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.91 IFNGR2 Zornitza Stark Phenotypes for gene: IFNGR2 were changed from to Immunodeficiency 28, mycobacteriosis, MIM# 614889
Defects of intrinsic and innate immunity v0.90 IFNGR2 Zornitza Stark Publications for gene: IFNGR2 were set to
Defects of intrinsic and innate immunity v0.89 IFNGR2 Zornitza Stark Mode of inheritance for gene: IFNGR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.88 IFNGR2 Zornitza Stark reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15924140, 18625743, 31222290; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM# 614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.88 IFNGR1 Zornitza Stark Marked gene: IFNGR1 as ready
Defects of intrinsic and innate immunity v0.88 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.88 IFNGR1 Zornitza Stark Phenotypes for gene: IFNGR1 were changed from to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Defects of intrinsic and innate immunity v0.87 IFNGR1 Zornitza Stark Publications for gene: IFNGR1 were set to
Defects of intrinsic and innate immunity v0.86 IFNGR1 Zornitza Stark Mode of inheritance for gene: IFNGR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.85 IFNGR1 Zornitza Stark reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7815885, 8960475, 9389728, 10811850, 10192386, 12244188, 15589309; Phenotypes: Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950, Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.85 UNC93B1 Zornitza Stark Marked gene: UNC93B1 as ready
Defects of intrinsic and innate immunity v0.85 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.85 UNC93B1 Zornitza Stark Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Defects of intrinsic and innate immunity v0.84 UNC93B1 Zornitza Stark Publications for gene: UNC93B1 were set to
Defects of intrinsic and innate immunity v0.83 UNC93B1 Zornitza Stark Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.82 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.82 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.81 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
Defects of intrinsic and innate immunity v0.81 SPPL2A Zornitza Stark Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella
Defects of intrinsic and innate immunity v0.80 SPPL2A Zornitza Stark edited their review of gene: SPPL2A: Changed phenotypes: Immunodeficiency 86, MIM#619549, Susceptibility to mycobacteria and Salmonella
Defects of intrinsic and innate immunity v0.80 TYK2 Zornitza Stark Marked gene: TYK2 as ready
Defects of intrinsic and innate immunity v0.80 TYK2 Zornitza Stark Gene: tyk2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.80 TYK2 Zornitza Stark Phenotypes for gene: TYK2 were changed from to Immunodeficiency 35, MIM# 611521
Defects of intrinsic and innate immunity v0.79 TYK2 Zornitza Stark Publications for gene: TYK2 were set to
Defects of intrinsic and innate immunity v0.78 TYK2 Zornitza Stark Mode of inheritance for gene: TYK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.77 TYK2 Zornitza Stark reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17088085, 17521577, 26304966; Phenotypes: Immunodeficiency 35, MIM# 611521; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.76 PLEKHM1 Bryony Thompson Classified gene: PLEKHM1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.76 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.75 PLEKHM1 Bryony Thompson Deleted their comment
Defects of intrinsic and innate immunity v0.75 PLEKHM1 Bryony Thompson edited their review of gene: PLEKHM1: Added comment: 2 unrelated cases with monoallelic variants and 2 unrelated cases with biallelic variants, with supporting animal models. The recessive form is the only form reported in the IUIS 2019 PID update.; Changed rating: GREEN; Changed publications: 17404618, 32048120, 17997709, 27291868, 27777970, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107, Osteopetrosis, autosomal recessive 6 MIM#611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.75 IL17RC Zornitza Stark Marked gene: IL17RC as ready
Defects of intrinsic and innate immunity v0.75 IL17RC Zornitza Stark Gene: il17rc has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.75 IL17RC Zornitza Stark Phenotypes for gene: IL17RC were changed from to Candidiasis, familial, 9, MIM# 616445; MONDO:0014642
Defects of intrinsic and innate immunity v0.74 IL17RC Zornitza Stark Publications for gene: IL17RC were set to
Defects of intrinsic and innate immunity v0.73 IL17RC Zornitza Stark Mode of inheritance for gene: IL17RC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.72 IL17RC Zornitza Stark reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: None; Publications: 25918342; Phenotypes: Candidiasis, familial, 9, MIM# 616445, MONDO:0014642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.72 IL17RA Zornitza Stark Marked gene: IL17RA as ready
Defects of intrinsic and innate immunity v0.72 IL17RA Zornitza Stark Gene: il17ra has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.72 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from to Immunodeficiency 51, MIM# 613953; MONDO:0013500
Defects of intrinsic and innate immunity v0.71 IL17RA Zornitza Stark Publications for gene: IL17RA were set to
Defects of intrinsic and innate immunity v0.70 IL17RA Zornitza Stark Mode of inheritance for gene: IL17RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.69 IL17RA Zornitza Stark reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21350122, 27930337; Phenotypes: Immunodeficiency 51, MIM# 613953, MONDO:0013500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.69 CARD9 Zornitza Stark Marked gene: CARD9 as ready
Defects of intrinsic and innate immunity v0.69 CARD9 Zornitza Stark Gene: card9 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.69 CARD9 Zornitza Stark Phenotypes for gene: CARD9 were changed from to Candidiasis, familial, 2, autosomal recessive, MIM# 212050; Predisposition to invasive fungal disease, MONDO:0008905
Defects of intrinsic and innate immunity v0.68 CARD9 Zornitza Stark Publications for gene: CARD9 were set to
Defects of intrinsic and innate immunity v0.67 CARD9 Zornitza Stark Mode of inheritance for gene: CARD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.66 CARD9 Zornitza Stark reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19864672, 23335372, 24131138, 33789983, 33558980, 33180249; Phenotypes: Candidiasis, familial, 2, autosomal recessive, MIM# 212050, Predisposition to invasive fungal disease, MONDO:0008905; Mode of inheritance: None
Defects of intrinsic and innate immunity v0.66 TNFSF11 Bryony Thompson Phenotypes for gene: TNFSF11 were changed from Osteoperosis, autosomal recessive 2 MIM#259710 to Osteopetrosis, autosomal recessive 2 MIM#259710
Defects of intrinsic and innate immunity v0.65 TNFSF11 Bryony Thompson changed review comment from: >3 cases reported with osteoclast poor osteoporosis, and a supporting null mouse model.
Sources: Expert list; to: >3 cases reported with osteoclast poor osteopetrosis, and a supporting null mouse model.
Sources: Expert list
Defects of intrinsic and innate immunity v0.65 TNFSF11 Bryony Thompson edited their review of gene: TNFSF11: Changed phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710
Defects of intrinsic and innate immunity v0.65 RANBP2 Bryony Thompson Marked gene: RANBP2 as ready
Defects of intrinsic and innate immunity v0.65 RANBP2 Bryony Thompson Gene: ranbp2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.65 RANBP2 Bryony Thompson Classified gene: RANBP2 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.65 RANBP2 Bryony Thompson Gene: ranbp2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.64 RANBP2 Bryony Thompson gene: RANBP2 was added
gene: RANBP2 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RANBP2 were set to 19118815; 25128471; 25522933; 32048120
Phenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Review for gene: RANBP2 was set to GREEN
Added comment: >3 unrelated cases reported, many with the same variant which was shown to arise independently and not a founder mutation.
Sources: Expert list
Defects of intrinsic and innate immunity v0.63 NBAS Bryony Thompson Marked gene: NBAS as ready
Defects of intrinsic and innate immunity v0.63 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.63 NBAS Bryony Thompson Classified gene: NBAS as Green List (high evidence)
Defects of intrinsic and innate immunity v0.63 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.62 NBAS Bryony Thompson gene: NBAS was added
gene: NBAS was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 26073778; 26286438; 33042920
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800; Infantile liver failure syndrome 2 MIM#616483
Review for gene: NBAS was set to GREEN
Added comment: Immunological abnormalities (characterized by hypogammaglobulinemia, low T-cells, and near-absent B-cells) leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients
Sources: Expert list
Defects of intrinsic and innate immunity v0.61 PSEN1 Bryony Thompson Classified gene: PSEN1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.61 PSEN1 Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.60 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 20929727; 32048120; 33333507; 30544224
Phenotypes for gene: PSEN1 were set to ?Acne inversa, familial, 3 MIM#613737
Review for gene: PSEN1 was set to GREEN
Added comment: 4 families (1 with segregation data) with 3 putative loss of function variants, and supporting functional assays demonstrating that loss of function is the mechanism of disease (unlike dominant-negative variants that cause Alzheimer's disease).
Sources: Expert list
Defects of intrinsic and innate immunity v0.59 NCSTN Bryony Thompson Marked gene: NCSTN as ready
Defects of intrinsic and innate immunity v0.59 NCSTN Bryony Thompson Gene: ncstn has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.59 NCSTN Bryony Thompson Classified gene: NCSTN as Green List (high evidence)
Defects of intrinsic and innate immunity v0.59 NCSTN Bryony Thompson Gene: ncstn has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.58 NCSTN Bryony Thompson gene: NCSTN was added
gene: NCSTN was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NCSTN were set to 20929727; 21412258; 32048120
Phenotypes for gene: NCSTN were set to Acne inversa, familial, 1 MIM#142690
Review for gene: NCSTN was set to GREEN
Added comment: >3 families reported with acne inversa (also known as hidradenitis suppurativa)
Sources: Expert list
Defects of intrinsic and innate immunity v0.57 PSENEN Bryony Thompson Marked gene: PSENEN as ready
Defects of intrinsic and innate immunity v0.57 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.57 PSENEN Bryony Thompson Classified gene: PSENEN as Green List (high evidence)
Defects of intrinsic and innate immunity v0.57 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.56 PSENEN Bryony Thompson changed review comment from: >3 cases reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition
Sources: Expert list; to: >3 families reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition
Sources: Expert list
Defects of intrinsic and innate immunity v0.56 PSENEN Bryony Thompson gene: PSENEN was added
gene: PSENEN was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSENEN were set to 20929727; 21412258; 27900998; 32048120
Phenotypes for gene: PSENEN were set to Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736
Review for gene: PSENEN was set to GREEN
Added comment: >3 cases reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition
Sources: Expert list
Defects of intrinsic and innate immunity v0.55 TNFSF11 Bryony Thompson Marked gene: TNFSF11 as ready
Defects of intrinsic and innate immunity v0.55 TNFSF11 Bryony Thompson Gene: tnfsf11 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.55 TNFSF11 Bryony Thompson Classified gene: TNFSF11 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.55 TNFSF11 Bryony Thompson Gene: tnfsf11 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.54 TNFSF11 Bryony Thompson gene: TNFSF11 was added
gene: TNFSF11 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF11 were set to 17632511; 32048120; 10984520
Phenotypes for gene: TNFSF11 were set to Osteoperosis, autosomal recessive 2 MIM#259710
Review for gene: TNFSF11 was set to GREEN
Added comment: >3 cases reported with osteoclast poor osteoporosis, and a supporting null mouse model.
Sources: Expert list
Defects of intrinsic and innate immunity v0.53 SNX10 Bryony Thompson Marked gene: SNX10 as ready
Defects of intrinsic and innate immunity v0.53 SNX10 Bryony Thompson Gene: snx10 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.53 SNX10 Bryony Thompson Classified gene: SNX10 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.53 SNX10 Bryony Thompson Gene: snx10 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.52 SNX10 Bryony Thompson gene: SNX10 was added
gene: SNX10 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX10 were set to 22499339; 23123320; 30885997; 32048120; 32278070
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 MIM#615085
Review for gene: SNX10 was set to GREEN
Added comment: >3 cases reported and supporting knock-in homozygous mouse model. Impaired osteoclast function is the cause of the condition.
Sources: Expert list
Defects of intrinsic and innate immunity v0.51 OSTM1 Bryony Thompson Marked gene: OSTM1 as ready
Defects of intrinsic and innate immunity v0.51 OSTM1 Bryony Thompson Gene: ostm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.51 OSTM1 Bryony Thompson Classified gene: OSTM1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.51 OSTM1 Bryony Thompson Gene: ostm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.50 OSTM1 Bryony Thompson gene: OSTM1 was added
gene: OSTM1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTM1 were set to 12627228; 15108279; 16813530; 23772242; 32048120
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 MIM#259720
Review for gene: OSTM1 was set to GREEN
Added comment: >3 cases reported and a supporting null mouse model. The condition is caused by osteoclast impairment.
Sources: Expert list
Defects of intrinsic and innate immunity v0.49 CLCN7 Bryony Thompson Marked gene: CLCN7 as ready
Defects of intrinsic and innate immunity v0.49 CLCN7 Bryony Thompson Gene: clcn7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.49 CLCN7 Bryony Thompson Classified gene: CLCN7 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.49 CLCN7 Bryony Thompson Gene: clcn7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.48 CLCN7 Bryony Thompson gene: CLCN7 was added
gene: CLCN7 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCN7 were set to 11207362; 15231021; 17033731; 19507210; 32048120
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 MIM#611490
Review for gene: CLCN7 was set to GREEN
Added comment: At least 4 unrelated cases reported, and a supporting mouse model. Impaired osteoclast (derived from myeloid/monocyte lineage) function is a feature of the condition.
Sources: Expert list
Defects of intrinsic and innate immunity v0.47 TCIRG1 Bryony Thompson Marked gene: TCIRG1 as ready
Defects of intrinsic and innate immunity v0.47 TCIRG1 Bryony Thompson Gene: tcirg1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.47 TCIRG1 Bryony Thompson Classified gene: TCIRG1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.47 TCIRG1 Bryony Thompson Gene: tcirg1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.46 TCIRG1 Bryony Thompson gene: TCIRG1 was added
gene: TCIRG1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCIRG1 were set to 10888887; 31938717; 19507210; 32048120
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 MIM#259700
Review for gene: TCIRG1 was set to GREEN
gene: TCIRG1 was marked as current diagnostic
Added comment: >3 cases reported and supporting mouse model. Cases have been reported with immunodeficiency.
Sources: Expert list
Defects of intrinsic and innate immunity v0.45 PLEKHM1 Bryony Thompson Marked gene: PLEKHM1 as ready
Defects of intrinsic and innate immunity v0.45 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.45 PLEKHM1 Bryony Thompson gene: PLEKHM1 was added
gene: PLEKHM1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: PLEKHM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHM1 were set to 17404618; 32048120
Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 MIM#611497
Review for gene: PLEKHM1 was set to RED
Added comment: Currently only a single case reported with the recessive condition, which is is the only form reported in the IUIS 2019 PID update.
Sources: Expert list
Defects of intrinsic and innate immunity v0.44 TNFRSF11A Bryony Thompson Marked gene: TNFRSF11A as ready
Defects of intrinsic and innate immunity v0.44 TNFRSF11A Bryony Thompson Gene: tnfrsf11a has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.44 TNFRSF11A Bryony Thompson Classified gene: TNFRSF11A as Green List (high evidence)
Defects of intrinsic and innate immunity v0.44 TNFRSF11A Bryony Thompson Gene: tnfrsf11a has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.43 TNFRSF11A Bryony Thompson gene: TNFRSF11A was added
gene: TNFRSF11A was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 MIM#612301
Review for gene: TNFRSF11A was set to GREEN
gene: TNFRSF11A was marked as current diagnostic
Added comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.
Sources: Expert list
Defects of intrinsic and innate immunity v0.42 JAK1 Zornitza Stark Phenotypes for gene: JAK1 were changed from Susceptibility to mycobacteria and viruses to Susceptibility to mycobacteria and viruses; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Defects of intrinsic and innate immunity v0.41 JAK1 Zornitza Stark edited their review of gene: JAK1: Changed phenotypes: Susceptibility to mycobacteria and viruses, Viral infections, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Marked gene: TRAF3IP2 as ready
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527
Defects of intrinsic and innate immunity v0.40 TRAF3IP2 Zornitza Stark Publications for gene: TRAF3IP2 were set to
Defects of intrinsic and innate immunity v0.39 TRAF3IP2 Zornitza Stark Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.38 TRAF3IP2 Zornitza Stark Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.38 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.37 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Defects of intrinsic and innate immunity v0.36 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Defects of intrinsic and innate immunity v0.35 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.34 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.34 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.33 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
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Defects of intrinsic and innate immunity v0.32 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Defects of intrinsic and innate immunity v0.31 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.30 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.30 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.29 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
Defects of intrinsic and innate immunity v0.29 IL17F Zornitza Stark Phenotypes for gene: IL17F were changed from to Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Defects of intrinsic and innate immunity v0.28 IL17F Zornitza Stark Publications for gene: IL17F were set to
Defects of intrinsic and innate immunity v0.27 IL17F Zornitza Stark Mode of inheritance for gene: IL17F was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.26 IL17F Zornitza Stark Classified gene: IL17F as Red List (low evidence)
Defects of intrinsic and innate immunity v0.26 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.25 IL17F Zornitza Stark reviewed gene: IL17F: Rating: RED; Mode of pathogenicity: None; Publications: 21350122; Phenotypes: Candidiasis, familial, 6, autosomal dominant, MIM# 613956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Defects of intrinsic and innate immunity v0.24 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Defects of intrinsic and innate immunity v0.23 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.22 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.22 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.21 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
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Defects of intrinsic and innate immunity v0.20 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.19 APOL1 Zornitza Stark Classified gene: APOL1 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.19 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.18 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Marked gene: HMOX1 as ready
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Classified gene: HMOX1 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.17 HMOX1 Zornitza Stark gene: HMOX1 was added
gene: HMOX1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238
Phenotypes for gene: HMOX1 were set to Heme oxygenase-1 deficiency, MIM# 614034; Asplenia
Review for gene: HMOX1 was set to AMBER
Added comment: Two families reported, functional data.
Sources: Expert list
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark Marked gene: TIRAP as ready
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark Gene: tirap has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark gene: TIRAP was added
gene: TIRAP was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIRAP were set to 28235196
Phenotypes for gene: TIRAP were set to Staphylococcal disease during childhood
Review for gene: TIRAP was set to RED
Added comment: Eight individuals from a single family.
Sources: Expert list
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Tag SV/CNV tag was added to gene: IRAK1.
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Marked gene: IRAK1 as ready
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Gene: irak1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark gene: IRAK1 was added
gene: IRAK1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRAK1 were set to 28069966
Phenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections
Review for gene: IRAK1 was set to RED
Added comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies.
Sources: Expert list
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Marked gene: CIB1 as ready
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.13 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Defects of innate immunity. 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 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: 24 individuals from 6 families reported.
Sources: Expert list
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Classified gene: JAK1 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.11 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAK1 were set to 28008925; 30671064
Phenotypes for gene: JAK1 were set to Susceptibility to mycobacteria and viruses
Review for gene: JAK1 was set to AMBER
Added comment: Single individual reported, mouse model with NK cell defect.
Sources: Expert list
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Marked gene: SPPL2A as ready
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.9 SPPL2A Zornitza Stark gene: SPPL2A was added
gene: SPPL2A was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30127434
Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella
Review for gene: SPPL2A was set to AMBER
Added comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.
Sources: Expert list
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark Marked gene: IL23R as ready
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark gene: IL23R was added
gene: IL23R was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL23R were set to 30578351
Phenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL23R was set to RED
Added comment: Single family reported.
Sources: Expert list
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark Marked gene: IL12RB2 as ready
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark Gene: il12rb2 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark gene: IL12RB2 was added
gene: IL12RB2 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL12RB2 were set to 30578351
Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL12RB2 was set to RED
Added comment: Single individual reported, some functional data.
Sources: Expert list
Defects of intrinsic and innate immunity v0.6 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Defects of intrinsic and innate immunity v0.5 Zornitza Stark Panel name changed from Defects of innate immunity_MelbourneGenomics_VCGS to Defects of innate immunity
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Marked gene: RPSA as ready
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Gene: rpsa has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital, MIM# 271400
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Publications for gene: RPSA were set to
Defects of intrinsic and innate immunity v0.3 RPSA Zornitza Stark Mode of inheritance for gene: RPSA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.2 RPSA Zornitza Stark reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579497; Phenotypes: Asplenia, isolated congenital, MIM# 271400; Mode of inheritance: None
Defects of intrinsic and innate immunity v0.1 Zornitza Stark Panel name changed from Defects of innate immunity_MGHA_AGHA_VCGS to Defects of innate immunity_MelbourneGenomics_VCGS
Defects of intrinsic and innate immunity v0.0 UNC93B1 Zornitza Stark gene: UNC93B1 was added
gene: UNC93B1 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 TYK2 Zornitza Stark gene: TYK2 was added
gene: TYK2 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TYK2 was set to Unknown
Defects of intrinsic and innate immunity v0.0 TRAF3IP2 Zornitza Stark gene: TRAF3IP2 was added
gene: TRAF3IP2 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TRAF3IP2 was set to Unknown
Defects of intrinsic and innate immunity v0.0 TRAF3 Zornitza Stark gene: TRAF3 was added
gene: TRAF3 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 TMC8 Zornitza Stark gene: TMC8 was added
gene: TMC8 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 TMC6 Zornitza Stark gene: TMC6 was added
gene: TMC6 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 TLR3 Zornitza Stark gene: TLR3 was added
gene: TLR3 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 TICAM1 Zornitza Stark gene: TICAM1 was added
gene: TICAM1 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 TBK1 Zornitza Stark gene: TBK1 was added
gene: TBK1 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 STAT2 Zornitza Stark gene: STAT2 was added
gene: STAT2 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 RPSA Zornitza Stark gene: RPSA was added
gene: RPSA was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RPSA was set to Unknown
Defects of intrinsic and innate immunity v0.0 RORC Zornitza Stark gene: RORC was added
gene: RORC was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RORC was set to Unknown
Defects of intrinsic and innate immunity v0.0 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MYD88 was set to Unknown
Defects of intrinsic and innate immunity v0.0 ISG15 Zornitza Stark gene: ISG15 was added
gene: ISG15 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ISG15 was set to Unknown
Defects of intrinsic and innate immunity v0.0 IRF8 Zornitza Stark gene: IRF8 was added
gene: IRF8 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IRF8 was set to Unknown
Defects of intrinsic and innate immunity v0.0 IRF7 Zornitza Stark gene: IRF7 was added
gene: IRF7 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 IRAK4 Zornitza Stark gene: IRAK4 was added
gene: IRAK4 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IRAK4 was set to Unknown
Defects of intrinsic and innate immunity v0.0 IL17RC Zornitza Stark gene: IL17RC was added
gene: IL17RC was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL17RC was set to Unknown
Defects of intrinsic and innate immunity v0.0 IL17RA Zornitza Stark gene: IL17RA was added
gene: IL17RA was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL17RA was set to Unknown
Defects of intrinsic and innate immunity v0.0 IL17F Zornitza Stark gene: IL17F was added
gene: IL17F was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL17F was set to Unknown
Defects of intrinsic and innate immunity v0.0 IL12RB1 Zornitza Stark gene: IL12RB1 was added
gene: IL12RB1 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL12RB1 was set to Unknown
Defects of intrinsic and innate immunity v0.0 IL12B Zornitza Stark gene: IL12B was added
gene: IL12B was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL12B was set to Unknown
Defects of intrinsic and innate immunity v0.0 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IFNGR2 was set to Unknown
Defects of intrinsic and innate immunity v0.0 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IFNGR1 was set to Unknown
Defects of intrinsic and innate immunity v0.0 FCGR3A Zornitza Stark gene: FCGR3A was added
gene: FCGR3A was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CYBB was set to Unknown
Defects of intrinsic and innate immunity v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to Defects of innate immunity_MGHA_AGHA_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
Defects of intrinsic and innate immunity v0.0 CARD9 Zornitza Stark gene: CARD9 was added
gene: CARD9 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CARD9 was set to Unknown
Defects of intrinsic and innate immunity v0.0 APOL1 Zornitza Stark gene: APOL1 was added
gene: APOL1 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: APOL1 was set to Unknown
Defects of intrinsic and innate immunity v0.0 Zornitza Stark Added panel Defects of innate immunity_MGHA_AGHA_VCGS