PanelApp (test)

Activity

Filter

Cancel
Date Panel Item Activity
121 actions
Mendelian susceptibility to Immune Disorders v0.50 Bryony Thompson Panel status changed from public to retired
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