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Mendelian susceptibility to Immune Disorders v0.49 USP18 Peter McNaughton gene: USP18 was added
gene: USP18 was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to PMID: 35258551
Phenotypes for gene: USP18 were set to Susceptibility to mycobacterial disease
Review for gene: USP18 was set to AMBER
Added comment: Partial USP18 deficiency in three siblings from a consanguineous family from Morocco presented with localized fistulizing lymphadenopathies after BCG vaccination
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.49 MCTS1 Zornitza Stark Phenotypes for gene: MCTS1 were changed from Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related to Immunodeficiency 118, mycobacteriosis, MIM# 301115
Mendelian susceptibility to Immune Disorders v0.48 TBX21 Zornitza Stark Phenotypes for gene: TBX21 were changed from Inherited susceptibility to mycobacterial disease, MONDO:0019146, TBX21-related to Immunodeficiency 88, MIM# 619630
Mendelian susceptibility to Immune Disorders v0.47 TBX21 Zornitza Stark Phenotypes for gene: TBX21 were changed from Susceptibility to mycobacterial disease to Inherited susceptibility to mycobacterial disease, MONDO:0019146, TBX21-related
Mendelian susceptibility to Immune Disorders v0.46 TBX21 Zornitza Stark Marked gene: TBX21 as ready
Mendelian susceptibility to Immune Disorders v0.46 TBX21 Zornitza Stark Gene: tbx21 has been classified as Amber List (Moderate Evidence).
Mendelian susceptibility to Immune Disorders v0.46 TBX21 Zornitza Stark Phenotypes for gene: TBX21 were changed from Susceptibility to mycobacterial disease to Susceptibility to mycobacterial disease
Mendelian susceptibility to Immune Disorders v0.45 TBX21 Zornitza Stark Classified gene: TBX21 as Amber List (moderate evidence)
Mendelian susceptibility to Immune Disorders v0.45 TBX21 Zornitza Stark Gene: tbx21 has been classified as Amber List (Moderate Evidence).
Mendelian susceptibility to Immune Disorders v0.44 SPPL2A Zornitza Stark Marked gene: SPPL2A as ready
Mendelian susceptibility to Immune Disorders v0.44 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Mendelian susceptibility to Immune Disorders v0.44 SPPL2A Zornitza Stark Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacterial disease to Immunodeficiency 86, MIM#619549
Mendelian susceptibility to Immune Disorders v0.43 SPPL2A Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence)
Mendelian susceptibility to Immune Disorders v0.43 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Mendelian susceptibility to Immune Disorders v0.42 SPPL2A Zornitza Stark reviewed gene: SPPL2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 86, MIM#619549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.42 IRF1 Zornitza Stark Phenotypes for gene: IRF1 were changed from Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related to Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668
Mendelian susceptibility to Immune Disorders v0.41 IRF1 Zornitza Stark edited their review of gene: IRF1: Changed phenotypes: Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668
Mendelian susceptibility to Immune Disorders v0.41 TBX21 Peter McNaughton gene: TBX21 was added
gene: TBX21 was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: TBX21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX21 were set to PMID: 33296702
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. Mouse model replicating phenotype.
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.41 SPPL2A Peter McNaughton gene: SPPL2A was added
gene: SPPL2A was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to PMID: 30127434
Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacterial disease
Review for gene: SPPL2A was set to GREEN
Added comment: 3 patients from 2 unrelated consanguineous families with BCG disease. Functional studies and mouse model replicating phenotype
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.41 MCTS1 Zornitza Stark Marked gene: MCTS1 as ready
Mendelian susceptibility to Immune Disorders v0.41 MCTS1 Zornitza Stark Gene: mcts1 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.41 MCTS1 Zornitza Stark Marked gene: MCTS1 as ready
Mendelian susceptibility to Immune Disorders v0.41 MCTS1 Zornitza Stark Gene: mcts1 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.41 MCTS1 Zornitza Stark Classified gene: MCTS1 as Green List (high evidence)
Mendelian susceptibility to Immune Disorders v0.41 MCTS1 Zornitza Stark Gene: mcts1 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.40 MCTS1 Zornitza Stark gene: MCTS1 was added
gene: MCTS1 was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MCTS1 were set to 37875108
Phenotypes for gene: MCTS1 were set to Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related
Review for gene: MCTS1 was set to GREEN
Added comment: 6 male subjects from 5 kindreds with LOF MCTS-1 variants with MSMD.
Extensive ex-vivo functional validation and mouse model.
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.39 IL23R Zornitza Stark Marked gene: IL23R as ready
Mendelian susceptibility to Immune Disorders v0.39 IL23R Zornitza Stark Gene: il23r has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.39 IL23R Zornitza Stark Phenotypes for gene: IL23R were changed from Susceptibility to mycobacterial disease to Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-related
Mendelian susceptibility to Immune Disorders v0.38 IL23R Zornitza Stark Classified gene: IL23R as Green List (high evidence)
Mendelian susceptibility to Immune Disorders v0.38 IL23R Zornitza Stark Gene: il23r has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.37 IRF1 Zornitza Stark Marked gene: IRF1 as ready
Mendelian susceptibility to Immune Disorders v0.37 IRF1 Zornitza Stark Gene: irf1 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.37 IRF1 Zornitza Stark Phenotypes for gene: IRF1 were changed from Susceptibility to mycobacterial disease to Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related
Mendelian susceptibility to Immune Disorders v0.36 IRF1 Zornitza Stark Classified gene: IRF1 as Green List (high evidence)
Mendelian susceptibility to Immune Disorders v0.36 IRF1 Zornitza Stark Gene: irf1 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.35 IRF1 Zornitza Stark reviewed gene: IRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.35 IRF1 Peter McNaughton gene: IRF1 was added
gene: IRF1 was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: IRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF1 were set to PMID: 36736301
Phenotypes for gene: IRF1 were set to Susceptibility to mycobacterial disease
Review for gene: IRF1 was set to GREEN
Added comment: Two unrelated children with recurrent early-onset life-threatening mycobacterial diseases due to multiple mycobacteria (BCG, M. avium) with supporting functional data.
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.35 IL23R Peter McNaughton gene: IL23R was added
gene: IL23R was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL23R were set to PMID: 36763636
Phenotypes for gene: IL23R were set to Susceptibility to mycobacterial disease
Review for gene: IL23R was set to GREEN
Added comment: Six patients from four unrelated Iranian kindreds with AR complete IL-23R deficiency presenting MSMD with complete penetrance. Also some patients with susceptibility to CMC with incomplete penetrance.
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.35 Zornitza Stark HPO terms changed from to Unusual infection, HP:0032101
List of related panels changed from to Unusual infection; HP:0032101
Mendelian susceptibility to Immune Disorders v0.34 CYBB Peter McNaughton reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21278736; Phenotypes: Susceptibility to mycobacterial disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendelian susceptibility to Immune Disorders v0.34 RORC Peter McNaughton reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26160376; Phenotypes: Susceptibility to mycobacterial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.34 STAT1 Peter McNaughton reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12590259, PMID: 16585605; Phenotypes: Susceptibility to mycobacterial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.34 IL12B Zornitza Stark Marked gene: IL12B as ready
Mendelian susceptibility to Immune Disorders v0.34 IL12B Zornitza Stark Gene: il12b has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.34 IL12B Zornitza Stark Phenotypes for gene: IL12B were changed from to Immunodeficiency 29, mycobacteriosis, MIM# 614890
Mendelian susceptibility to Immune Disorders v0.33 IL12B Zornitza Stark Publications for gene: IL12B were set to
Mendelian susceptibility to Immune Disorders v0.32 IL12B Zornitza Stark Mode of inheritance for gene: IL12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.31 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
Mendelian susceptibility to Immune Disorders v0.31 IL12RB1 Zornitza Stark Marked gene: IL12RB1 as ready
Mendelian susceptibility to Immune Disorders v0.31 IL12RB1 Zornitza Stark Gene: il12rb1 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.31 IL12RB1 Zornitza Stark Phenotypes for gene: IL12RB1 were changed from to Immunodeficiency 30, MIM# 614891
Mendelian susceptibility to Immune Disorders v0.30 IL12RB1 Zornitza Stark Publications for gene: IL12RB1 were set to
Mendelian susceptibility to Immune Disorders v0.29 IL12RB1 Zornitza Stark Mode of inheritance for gene: IL12RB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.28 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
Mendelian susceptibility to Immune Disorders v0.28 ISG15 Zornitza Stark Marked gene: ISG15 as ready
Mendelian susceptibility to Immune Disorders v0.28 ISG15 Zornitza Stark Gene: isg15 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.28 ISG15 Zornitza Stark Phenotypes for gene: ISG15 were changed from to Immunodeficiency 38, MIM# 616126
Mendelian susceptibility to Immune Disorders v0.27 ISG15 Zornitza Stark Publications for gene: ISG15 were set to
Mendelian susceptibility to Immune Disorders v0.26 ISG15 Zornitza Stark Mode of inheritance for gene: ISG15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.25 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
Mendelian susceptibility to Immune Disorders v0.25 IRF8 Zornitza Stark Marked gene: IRF8 as ready
Mendelian susceptibility to Immune Disorders v0.25 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.25 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
Mendelian susceptibility to Immune Disorders v0.24 IRF8 Zornitza Stark Publications for gene: IRF8 were set to
Mendelian susceptibility to Immune Disorders v0.23 IRF8 Zornitza Stark Mode of inheritance for gene: IRF8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.22 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
Mendelian susceptibility to Immune Disorders v0.22 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Mendelian susceptibility to Immune Disorders v0.22 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.22 IFNGR2 Zornitza Stark Phenotypes for gene: IFNGR2 were changed from to Immunodeficiency 28, mycobacteriosis, MIM# 614889
Mendelian susceptibility to Immune Disorders v0.21 IFNGR2 Zornitza Stark Publications for gene: IFNGR2 were set to
Mendelian susceptibility to Immune Disorders v0.20 IFNGR2 Zornitza Stark Mode of inheritance for gene: IFNGR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.19 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
Mendelian susceptibility to Immune Disorders v0.19 IFNGR1 Zornitza Stark Marked gene: IFNGR1 as ready
Mendelian susceptibility to Immune Disorders v0.19 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.19 IFNGR1 Zornitza Stark Phenotypes for gene: IFNGR1 were changed from to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Mendelian susceptibility to Immune Disorders v0.18 IFNGR1 Zornitza Stark Publications for gene: IFNGR1 were set to
Mendelian susceptibility to Immune Disorders v0.17 IFNGR1 Zornitza Stark Mode of inheritance for gene: IFNGR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.16 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
Mendelian susceptibility to Immune Disorders v0.16 ZNFX1 Zornitza Stark Publications for gene: ZNFX1 were set to 33876776
Mendelian susceptibility to Immune Disorders v0.15 ZNFX1 Chirag Patel Classified gene: ZNFX1 as Green List (high evidence)
Mendelian susceptibility to Immune Disorders v0.15 ZNFX1 Chirag Patel Gene: znfx1 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.14 ZNFX1 Chirag Patel reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 33872655, 34708404; Phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.14 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Susceptibility to mycobacterial infection to Immunodeficiency 91 and hyperinflammation, MIM# 619644
Mendelian susceptibility to Immune Disorders v0.13 ZNFX1 Zornitza Stark edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644
Mendelian susceptibility to Immune Disorders v0.13 TYK2 Zornitza Stark Marked gene: TYK2 as ready
Mendelian susceptibility to Immune Disorders v0.13 TYK2 Zornitza Stark Gene: tyk2 has been classified as Green List (High Evidence).
Mendelian susceptibility to Immune Disorders v0.13 TYK2 Zornitza Stark Phenotypes for gene: TYK2 were changed from to Immunodeficiency 35, MIM# 611521
Mendelian susceptibility to Immune Disorders v0.12 TYK2 Zornitza Stark Publications for gene: TYK2 were set to
Mendelian susceptibility to Immune Disorders v0.11 TYK2 Zornitza Stark Mode of inheritance for gene: TYK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendelian susceptibility to Immune Disorders v0.10 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
Mendelian susceptibility to Immune Disorders v0.10 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Mendelian susceptibility to Immune Disorders v0.10 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Amber List (Moderate Evidence).
Mendelian susceptibility to Immune Disorders v0.10 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Amber List (moderate evidence)
Mendelian susceptibility to Immune Disorders v0.10 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Amber List (Moderate Evidence).
Mendelian susceptibility to Immune Disorders v0.9 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33876776
Phenotypes for gene: ZNFX1 were set to Susceptibility to mycobacterial infection
Review for gene: ZNFX1 was set to AMBER
Added comment: Four indviduals from two unrelated kindreds reported with intermittent monocytosis and mycobacterial disease, including bacillus Calmette-Guérin-osis and disseminated tuberculosis.
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.8 MAPK8 Zornitza Stark Marked gene: MAPK8 as ready
Mendelian susceptibility to Immune Disorders v0.8 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Mendelian susceptibility to Immune Disorders v0.8 MAPK8 Zornitza Stark Classified gene: MAPK8 as Amber List (moderate evidence)
Mendelian susceptibility to Immune Disorders v0.8 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Mendelian susceptibility to Immune Disorders v0.7 MAPK8 Zornitza Stark gene: MAPK8 was added
gene: MAPK8 was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8 were set to 31784499
Phenotypes for gene: MAPK8 were set to Chronic mucocutaneous candidiasis; Connective tissue disorders
Review for gene: MAPK8 was set to AMBER
Added comment: PMID: 31784499 (2020) - Three cases in a single family with chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with hEDS. WES revealed a splice-site variant (c.311+1G>A) in the MAPK8 gene that segregated with the disorder. Includes supportive functional data using patient-derived fibroblasts, showing that the variant impairs IL-17A/F immunity and the development of Th17 cells.

Single family with high level of supportive functional data.
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.6 IFNG Zornitza Stark Phenotypes for gene: IFNG were changed from Mendelian susceptibility to mycobacterial disease to Mendelian susceptibility to mycobacterial disease; Immunodeficiency 69, MIM#618963
Mendelian susceptibility to Immune Disorders v0.5 IFNG Zornitza Stark edited their review of gene: IFNG: Changed phenotypes: Mendelian susceptibility to mycobacterial disease, Immunodeficiency 69, MIM#618963
Mendelian susceptibility to Immune Disorders v0.5 IFNG Zornitza Stark Marked gene: IFNG as ready
Mendelian susceptibility to Immune Disorders v0.5 IFNG Zornitza Stark Gene: ifng has been classified as Red List (Low Evidence).
Mendelian susceptibility to Immune Disorders v0.5 IFNG Zornitza Stark gene: IFNG was added
gene: IFNG was added to Mendelian susceptibility to Immune Disorders. Sources: Literature
Mode of inheritance for gene: IFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNG were set to 32163377
Phenotypes for gene: IFNG were set to Mendelian susceptibility to mycobacterial disease
Review for gene: IFNG was set to RED
Added comment: Two cousins with MSMD and homozygous intragenic deletion, some functional data.
Sources: Literature
Mendelian susceptibility to Immune Disorders v0.4 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Mendelian susceptibility to Immune Disorders v0.3 Zornitza Stark Panel name changed from Mendelian susceptibility to Immune Disorders_MelbourneGenomics_VCGS to Mendelian susceptibility to Immune Disorders
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Mendelian susceptibility to Immune Disorders v0.1 Zornitza Stark Panel name changed from Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_VCGS to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_VCGS
Mendelian susceptibility to Immune Disorders v0.0 TYK2 Zornitza Stark gene: TYK2 was added
gene: TYK2 was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STAT1 was set to Unknown
Mendelian susceptibility to Immune Disorders v0.0 RORC Zornitza Stark gene: RORC was added
gene: RORC was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 ISG15 Zornitza Stark gene: ISG15 was added
gene: ISG15 was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 IRF8 Zornitza Stark gene: IRF8 was added
gene: IRF8 was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 IL12RB1 Zornitza Stark gene: IL12RB1 was added
gene: IL12RB1 was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 IL12B Zornitza Stark gene: IL12B was added
gene: IL12B was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_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
Mendelian susceptibility to Immune Disorders v0.0 Zornitza Stark Added panel Mendelian susceptibility to Immune Disorders_MelbourneGenomics_AustralianGenomics_VCGS