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Defects of innate immunity v0.134 MAP1LC3B2 Zornitza Stark Marked gene: MAP1LC3B2 as ready
Defects of innate immunity v0.134 MAP1LC3B2 Zornitza Stark Gene: map1lc3b2 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.133 MAP1LC3B2 Zornitza Stark Classified gene: MAP1LC3B2 as Red List (low evidence)
Defects of innate immunity v0.133 MAP1LC3B2 Zornitza Stark Gene: map1lc3b2 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.132 HMOX1 Zornitza Stark Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238
Defects of innate immunity v0.131 HMOX1 Zornitza Stark Classified gene: HMOX1 as Green List (high evidence)
Defects of innate immunity v0.131 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.130 CASP4 Zornitza Stark Marked gene: CASP4 as ready
Defects of innate immunity v0.130 CASP4 Zornitza Stark Gene: casp4 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.129 CASP4 Zornitza Stark Classified gene: CASP4 as Red List (low evidence)
Defects of innate immunity v0.129 CASP4 Zornitza Stark Gene: casp4 has been classified as Red List (Low Evidence).
Defects of 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 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 innate immunity v0.127 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Defects of innate immunity v0.127 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Defects of 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 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 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 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 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 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 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 innate immunity v0.126 RORC Zornitza Stark Marked gene: RORC as ready
Defects of innate immunity v0.126 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Defects of innate immunity v0.126 RORC Zornitza Stark Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622
Defects of innate immunity v0.125 RORC Zornitza Stark Publications for gene: RORC were set to
Defects of innate immunity v0.124 RORC Zornitza Stark Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.123 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Defects of innate immunity v0.123 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Defects of innate immunity v0.123 CYBB Zornitza Stark Marked gene: CYBB as ready
Defects of innate immunity v0.123 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Defects of innate immunity v0.123 CYBB Zornitza Stark Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease, X-linked, MIM# 306400
Defects of innate immunity v0.122 CYBB Zornitza Stark Publications for gene: CYBB were set to
Defects of 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 innate immunity v0.120 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Defects of innate immunity v0.120 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Defects of innate immunity v0.120 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome 1, MIM# 193670
Defects of innate immunity v0.119 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
Defects of 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 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 innate immunity v0.116 IL23R Zornitza Stark Publications for gene: IL23R were set to 30578351
Defects of innate immunity v0.115 IL23R Zornitza Stark Classified gene: IL23R as Green List (high evidence)
Defects of innate immunity v0.115 IL23R Zornitza Stark Gene: il23r has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.114 TBX21 Zornitza Stark Marked gene: TBX21 as ready
Defects of innate immunity v0.114 TBX21 Zornitza Stark Gene: tbx21 has been classified as Amber List (Moderate Evidence).
Defects of innate immunity v0.114 TBX21 Zornitza Stark Classified gene: TBX21 as Amber List (moderate evidence)
Defects of innate immunity v0.114 TBX21 Zornitza Stark Gene: tbx21 has been classified as Amber List (Moderate Evidence).
Defects of 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 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 innate immunity v0.112 TMC8 Zornitza Stark Marked gene: TMC8 as ready
Defects of innate immunity v0.112 TMC8 Zornitza Stark Gene: tmc8 has been classified as Green List (High Evidence).
Defects of innate immunity v0.112 TMC8 Zornitza Stark Phenotypes for gene: TMC8 were changed from to Epidermodysplasia verruciformis 2, MIM# 618231
Defects of innate immunity v0.111 TMC8 Zornitza Stark Publications for gene: TMC8 were set to
Defects of innate immunity v0.110 TMC8 Zornitza Stark Mode of inheritance for gene: TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.109 MYD88 Zornitza Stark Marked gene: MYD88 as ready
Defects of innate immunity v0.109 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Defects of innate immunity v0.109 MYD88 Zornitza Stark Phenotypes for gene: MYD88 were changed from to Immunodeficiency 68, MIM# 612260
Defects of innate immunity v0.108 MYD88 Zornitza Stark Publications for gene: MYD88 were set to
Defects of innate immunity v0.107 MYD88 Zornitza Stark Mode of inheritance for gene: MYD88 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.106 IL12B Zornitza Stark Marked gene: IL12B as ready
Defects of innate immunity v0.106 IL12B Zornitza Stark Gene: il12b has been classified as Green List (High Evidence).
Defects of innate immunity v0.106 IL12B Zornitza Stark Phenotypes for gene: IL12B were changed from to Immunodeficiency 29, mycobacteriosis, MIM# 614890
Defects of innate immunity v0.105 IL12B Zornitza Stark Publications for gene: IL12B were set to
Defects of innate immunity v0.104 IL12B Zornitza Stark Mode of inheritance for gene: IL12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.103 IL12RB1 Zornitza Stark Marked gene: IL12RB1 as ready
Defects of innate immunity v0.103 IL12RB1 Zornitza Stark Gene: il12rb1 has been classified as Green List (High Evidence).
Defects of innate immunity v0.103 IL12RB1 Zornitza Stark Phenotypes for gene: IL12RB1 were changed from to Immunodeficiency 30, MIM# 614891
Defects of innate immunity v0.102 IL12RB1 Zornitza Stark Publications for gene: IL12RB1 were set to
Defects of innate immunity v0.101 IL12RB1 Zornitza Stark Mode of inheritance for gene: IL12RB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.100 ISG15 Zornitza Stark Marked gene: ISG15 as ready
Defects of innate immunity v0.100 ISG15 Zornitza Stark Gene: isg15 has been classified as Green List (High Evidence).
Defects of innate immunity v0.100 ISG15 Zornitza Stark Phenotypes for gene: ISG15 were changed from to Immunodeficiency 38, MIM# 616126
Defects of innate immunity v0.99 ISG15 Zornitza Stark Publications for gene: ISG15 were set to
Defects of innate immunity v0.98 ISG15 Zornitza Stark Mode of inheritance for gene: ISG15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.97 IRF8 Zornitza Stark Marked gene: IRF8 as ready
Defects of innate immunity v0.97 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.96 IRF8 Zornitza Stark Publications for gene: IRF8 were set to
Defects of 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 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 innate immunity v0.94 IRAK4 Zornitza Stark Marked gene: IRAK4 as ready
Defects of innate immunity v0.94 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Defects of innate immunity v0.94 IRAK4 Zornitza Stark Phenotypes for gene: IRAK4 were changed from to Immunodeficiency 67, MIM# 607676
Defects of innate immunity v0.93 IRAK4 Zornitza Stark Publications for gene: IRAK4 were set to
Defects of innate immunity v0.92 IRAK4 Zornitza Stark Mode of inheritance for gene: IRAK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.91 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Defects of innate immunity v0.91 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Green List (High Evidence).
Defects of innate immunity v0.91 IFNGR2 Zornitza Stark Phenotypes for gene: IFNGR2 were changed from to Immunodeficiency 28, mycobacteriosis, MIM# 614889
Defects of innate immunity v0.90 IFNGR2 Zornitza Stark Publications for gene: IFNGR2 were set to
Defects of innate immunity v0.89 IFNGR2 Zornitza Stark Mode of inheritance for gene: IFNGR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.88 IFNGR1 Zornitza Stark Marked gene: IFNGR1 as ready
Defects of innate immunity v0.88 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.87 IFNGR1 Zornitza Stark Publications for gene: IFNGR1 were set to
Defects of 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 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 innate immunity v0.85 UNC93B1 Zornitza Stark Marked gene: UNC93B1 as ready
Defects of innate immunity v0.85 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Defects of 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 innate immunity v0.84 UNC93B1 Zornitza Stark Publications for gene: UNC93B1 were set to
Defects of innate immunity v0.83 UNC93B1 Zornitza Stark Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of innate immunity v0.82 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Amber List (moderate evidence)
Defects of innate immunity v0.82 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Defects of 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 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 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 innate immunity v0.80 TYK2 Zornitza Stark Marked gene: TYK2 as ready
Defects of innate immunity v0.80 TYK2 Zornitza Stark Gene: tyk2 has been classified as Green List (High Evidence).
Defects of innate immunity v0.80 TYK2 Zornitza Stark Phenotypes for gene: TYK2 were changed from to Immunodeficiency 35, MIM# 611521
Defects of innate immunity v0.79 TYK2 Zornitza Stark Publications for gene: TYK2 were set to
Defects of innate immunity v0.78 TYK2 Zornitza Stark Mode of inheritance for gene: TYK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.76 PLEKHM1 Bryony Thompson Classified gene: PLEKHM1 as Green List (high evidence)
Defects of innate immunity v0.76 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Green List (High Evidence).
Defects of innate immunity v0.75 PLEKHM1 Bryony Thompson Deleted their comment
Defects of 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 innate immunity v0.75 IL17RC Zornitza Stark Marked gene: IL17RC as ready
Defects of innate immunity v0.75 IL17RC Zornitza Stark Gene: il17rc has been classified as Green List (High Evidence).
Defects of innate immunity v0.75 IL17RC Zornitza Stark Phenotypes for gene: IL17RC were changed from to Candidiasis, familial, 9, MIM# 616445; MONDO:0014642
Defects of innate immunity v0.74 IL17RC Zornitza Stark Publications for gene: IL17RC were set to
Defects of innate immunity v0.73 IL17RC Zornitza Stark Mode of inheritance for gene: IL17RC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.72 IL17RA Zornitza Stark Marked gene: IL17RA as ready
Defects of innate immunity v0.72 IL17RA Zornitza Stark Gene: il17ra has been classified as Green List (High Evidence).
Defects of innate immunity v0.72 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from to Immunodeficiency 51, MIM# 613953; MONDO:0013500
Defects of innate immunity v0.71 IL17RA Zornitza Stark Publications for gene: IL17RA were set to
Defects of innate immunity v0.70 IL17RA Zornitza Stark Mode of inheritance for gene: IL17RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 innate immunity v0.69 CARD9 Zornitza Stark Marked gene: CARD9 as ready
Defects of innate immunity v0.69 CARD9 Zornitza Stark Gene: card9 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.68 CARD9 Zornitza Stark Publications for gene: CARD9 were set to
Defects of innate immunity v0.67 CARD9 Zornitza Stark Mode of inheritance for gene: CARD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of 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 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 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 innate immunity v0.65 TNFSF11 Bryony Thompson edited their review of gene: TNFSF11: Changed phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710
Defects of innate immunity v0.65 RANBP2 Bryony Thompson Marked gene: RANBP2 as ready
Defects of innate immunity v0.65 RANBP2 Bryony Thompson Gene: ranbp2 has been classified as Green List (High Evidence).
Defects of innate immunity v0.65 RANBP2 Bryony Thompson Classified gene: RANBP2 as Green List (high evidence)
Defects of innate immunity v0.65 RANBP2 Bryony Thompson Gene: ranbp2 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.63 NBAS Bryony Thompson Marked gene: NBAS as ready
Defects of innate immunity v0.63 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Defects of innate immunity v0.63 NBAS Bryony Thompson Classified gene: NBAS as Green List (high evidence)
Defects of innate immunity v0.63 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.61 PSEN1 Bryony Thompson Classified gene: PSEN1 as Green List (high evidence)
Defects of innate immunity v0.61 PSEN1 Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.59 NCSTN Bryony Thompson Marked gene: NCSTN as ready
Defects of innate immunity v0.59 NCSTN Bryony Thompson Gene: ncstn has been classified as Green List (High Evidence).
Defects of innate immunity v0.59 NCSTN Bryony Thompson Classified gene: NCSTN as Green List (high evidence)
Defects of innate immunity v0.59 NCSTN Bryony Thompson Gene: ncstn has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.57 PSENEN Bryony Thompson Marked gene: PSENEN as ready
Defects of innate immunity v0.57 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Defects of innate immunity v0.57 PSENEN Bryony Thompson Classified gene: PSENEN as Green List (high evidence)
Defects of innate immunity v0.57 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Defects of 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 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 innate immunity v0.55 TNFSF11 Bryony Thompson Marked gene: TNFSF11 as ready
Defects of innate immunity v0.55 TNFSF11 Bryony Thompson Gene: tnfsf11 has been classified as Green List (High Evidence).
Defects of innate immunity v0.55 TNFSF11 Bryony Thompson Classified gene: TNFSF11 as Green List (high evidence)
Defects of innate immunity v0.55 TNFSF11 Bryony Thompson Gene: tnfsf11 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.53 SNX10 Bryony Thompson Marked gene: SNX10 as ready
Defects of innate immunity v0.53 SNX10 Bryony Thompson Gene: snx10 has been classified as Green List (High Evidence).
Defects of innate immunity v0.53 SNX10 Bryony Thompson Classified gene: SNX10 as Green List (high evidence)
Defects of innate immunity v0.53 SNX10 Bryony Thompson Gene: snx10 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.51 OSTM1 Bryony Thompson Marked gene: OSTM1 as ready
Defects of innate immunity v0.51 OSTM1 Bryony Thompson Gene: ostm1 has been classified as Green List (High Evidence).
Defects of innate immunity v0.51 OSTM1 Bryony Thompson Classified gene: OSTM1 as Green List (high evidence)
Defects of innate immunity v0.51 OSTM1 Bryony Thompson Gene: ostm1 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.49 CLCN7 Bryony Thompson Marked gene: CLCN7 as ready
Defects of innate immunity v0.49 CLCN7 Bryony Thompson Gene: clcn7 has been classified as Green List (High Evidence).
Defects of innate immunity v0.49 CLCN7 Bryony Thompson Classified gene: CLCN7 as Green List (high evidence)
Defects of innate immunity v0.49 CLCN7 Bryony Thompson Gene: clcn7 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.47 TCIRG1 Bryony Thompson Marked gene: TCIRG1 as ready
Defects of innate immunity v0.47 TCIRG1 Bryony Thompson Gene: tcirg1 has been classified as Green List (High Evidence).
Defects of innate immunity v0.47 TCIRG1 Bryony Thompson Classified gene: TCIRG1 as Green List (high evidence)
Defects of innate immunity v0.47 TCIRG1 Bryony Thompson Gene: tcirg1 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.45 PLEKHM1 Bryony Thompson Marked gene: PLEKHM1 as ready
Defects of innate immunity v0.45 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.44 TNFRSF11A Bryony Thompson Marked gene: TNFRSF11A as ready
Defects of innate immunity v0.44 TNFRSF11A Bryony Thompson Gene: tnfrsf11a has been classified as Green List (High Evidence).
Defects of innate immunity v0.44 TNFRSF11A Bryony Thompson Classified gene: TNFRSF11A as Green List (high evidence)
Defects of innate immunity v0.44 TNFRSF11A Bryony Thompson Gene: tnfrsf11a has been classified as Green List (High Evidence).
Defects of 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 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 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 innate immunity v0.41 TRAF3IP2 Zornitza Stark Marked gene: TRAF3IP2 as ready
Defects of innate immunity v0.41 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Defects of innate immunity v0.41 TRAF3IP2 Zornitza Stark Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527
Defects of innate immunity v0.40 TRAF3IP2 Zornitza Stark Publications for gene: TRAF3IP2 were set to
Defects of innate immunity v0.39 TRAF3IP2 Zornitza Stark Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of innate immunity v0.38 TRAF3IP2 Zornitza Stark Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Defects of innate immunity v0.38 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Defects of 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 innate immunity v0.37 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Defects of innate immunity v0.37 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.36 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Defects of 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 innate immunity v0.34 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Defects of innate immunity v0.34 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.33 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Defects of innate immunity v0.33 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Defects of innate immunity v0.33 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Defects of innate immunity v0.32 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Defects of innate immunity v0.31 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of innate immunity v0.30 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Defects of innate immunity v0.30 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Defects of 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 innate immunity v0.29 IL17F Zornitza Stark Phenotypes for gene: IL17F were changed from to Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Defects of innate immunity v0.28 IL17F Zornitza Stark Publications for gene: IL17F were set to
Defects of 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 innate immunity v0.26 IL17F Zornitza Stark Classified gene: IL17F as Red List (low evidence)
Defects of innate immunity v0.26 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.25 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Defects of innate immunity v0.25 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Defects of innate immunity v0.25 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Defects of innate immunity v0.24 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Defects of innate immunity v0.23 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of innate immunity v0.22 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Defects of innate immunity v0.22 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Defects of 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 innate immunity v0.21 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Defects of innate immunity v0.21 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Defects of innate immunity v0.21 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Defects of 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 innate immunity v0.19 APOL1 Zornitza Stark Classified gene: APOL1 as Red List (low evidence)
Defects of innate immunity v0.19 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.18 HMOX1 Zornitza Stark Marked gene: HMOX1 as ready
Defects of innate immunity v0.18 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Defects of innate immunity v0.18 HMOX1 Zornitza Stark Classified gene: HMOX1 as Amber List (moderate evidence)
Defects of innate immunity v0.18 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Defects of 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 innate immunity v0.16 TIRAP Zornitza Stark Marked gene: TIRAP as ready
Defects of innate immunity v0.16 TIRAP Zornitza Stark Gene: tirap has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.15 IRAK1 Zornitza Stark Tag SV/CNV tag was added to gene: IRAK1.
Defects of innate immunity v0.15 IRAK1 Zornitza Stark Marked gene: IRAK1 as ready
Defects of innate immunity v0.15 IRAK1 Zornitza Stark Gene: irak1 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.14 CIB1 Zornitza Stark Marked gene: CIB1 as ready
Defects of innate immunity v0.14 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Defects of innate immunity v0.14 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Defects of innate immunity v0.14 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Defects of 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 innate immunity v0.12 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Defects of innate immunity v0.12 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Defects of innate immunity v0.12 JAK1 Zornitza Stark Classified gene: JAK1 as Amber List (moderate evidence)
Defects of innate immunity v0.12 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Defects of 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 innate immunity v0.10 SPPL2A Zornitza Stark Marked gene: SPPL2A as ready
Defects of innate immunity v0.10 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Defects of innate immunity v0.10 SPPL2A Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence)
Defects of innate immunity v0.10 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Defects of 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 innate immunity v0.8 IL23R Zornitza Stark Marked gene: IL23R as ready
Defects of innate immunity v0.8 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.7 IL12RB2 Zornitza Stark Marked gene: IL12RB2 as ready
Defects of innate immunity v0.7 IL12RB2 Zornitza Stark Gene: il12rb2 has been classified as Red List (Low Evidence).
Defects of 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 innate immunity v0.6 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Defects of 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 innate immunity v0.4 RPSA Zornitza Stark Marked gene: RPSA as ready
Defects of innate immunity v0.4 RPSA Zornitza Stark Gene: rpsa has been classified as Green List (High Evidence).
Defects of innate immunity v0.4 RPSA Zornitza Stark Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital, MIM# 271400
Defects of innate immunity v0.4 RPSA Zornitza Stark Publications for gene: RPSA were set to
Defects of 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 innate immunity v0.0 Zornitza Stark Added panel Defects of innate immunity_MGHA_AGHA_VCGS