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Susceptibility to Fungal Infections v1.7 Zornitza Stark HPO terms changed from to Recurrent fungal infections, HP:0002841
List of related panels changed from to Recurrent fungal infections; HP:0002841
Susceptibility to Fungal Infections v1.6 CLEC7A Zornitza Stark Marked gene: CLEC7A as ready
Susceptibility to Fungal Infections v1.6 CLEC7A Zornitza Stark Gene: clec7a has been classified as Red List (Low Evidence).
Susceptibility to Fungal Infections v1.6 CLEC7A Zornitza Stark Phenotypes for gene: CLEC7A were changed from Mucocutaneous candidiasis to Candidiasis, familial, 4, autosomal recessive MIM#613108; {Aspergillosis, susceptibility to} , MIM#614079; Mucocutaneous candidiasis
Susceptibility to Fungal Infections v1.5 CLEC7A Zornitza Stark Classified gene: CLEC7A as Red List (low evidence)
Susceptibility to Fungal Infections v1.5 CLEC7A Zornitza Stark Gene: clec7a has been classified as Red List (Low Evidence).
Susceptibility to Fungal Infections v1.4 CLEC7A Zornitza Stark reviewed gene: CLEC7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Candidiasis, familial, 4, autosomal recessive MIM#613108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Fungal Infections v1.4 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Susceptibility to Fungal Infections v1.4 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v1.4 STAT3 Zornitza Stark Phenotypes for gene: STAT3 were changed from Mucocutaneous candidiasis to Hyper-IgE recurrent infection syndrome , MIM#147060; Mucocutaneous candidiasis
Susceptibility to Fungal Infections v1.3 STAT3 Zornitza Stark Classified gene: STAT3 as Green List (high evidence)
Susceptibility to Fungal Infections v1.3 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v1.2 STAT3 Zornitza Stark reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome , MIM#147060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Fungal Infections v1.2 AIRE Zornitza Stark Marked gene: AIRE as ready
Susceptibility to Fungal Infections v1.2 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v1.2 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Susceptibility to Fungal Infections v1.1 AIRE Zornitza Stark Classified gene: AIRE as Green List (high evidence)
Susceptibility to Fungal Infections v1.1 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v1.0 CLEC7A Peter McNaughton gene: CLEC7A was added
gene: CLEC7A was added to Susceptibility to Fungal Infections. Sources: Literature
Mode of inheritance for gene: CLEC7A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLEC7A were set to PMID: 19864674
Phenotypes for gene: CLEC7A were set to Mucocutaneous candidiasis
Review for gene: CLEC7A was set to RED
Added comment: Single kindred with mucocutaneous candida.
Sources: Literature
Susceptibility to Fungal Infections v1.0 STAT3 Peter McNaughton gene: STAT3 was added
gene: STAT3 was added to Susceptibility to Fungal Infections. Sources: Literature
Mode of inheritance for gene: STAT3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STAT3 were set to PMID: 30185668; PMID: 22751495
Phenotypes for gene: STAT3 were set to Mucocutaneous candidiasis
Mode of pathogenicity for gene: STAT3 was set to Other
Added comment: Mucocutaneous candida in 85% of STAT3-LOF
Sources: Literature
Susceptibility to Fungal Infections v1.0 AIRE Peter McNaughton gene: AIRE was added
gene: AIRE was added to Susceptibility to Fungal Infections. Sources: Literature
Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AIRE were set to PMID: 30510552
Review for gene: AIRE was set to GREEN
Added comment: CMC is the most common infection occurring in APECED patients (77–100%), CMC is also the most common first clinical manifestation of APECED syndrome (40–93%)
Sources: Literature
Susceptibility to Fungal Infections v1.0 Zornitza Stark promoted panel to version 1.0
Susceptibility to Fungal Infections v0.29 RORC Zornitza Stark Marked gene: RORC as ready
Susceptibility to Fungal Infections v0.29 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v0.29 RORC Zornitza Stark Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710
Susceptibility to Fungal Infections v0.28 RORC Zornitza Stark Publications for gene: RORC were set to
Susceptibility to Fungal Infections v0.27 RORC Zornitza Stark Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Fungal Infections v0.26 RORC Zornitza Stark reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376; Phenotypes: Immunodeficiency 42, MIM# 616622, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Fungal Infections v0.26 IL17RC Zornitza Stark Marked gene: IL17RC as ready
Susceptibility to Fungal Infections v0.26 IL17RC Zornitza Stark Gene: il17rc has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v0.26 IL17RC Zornitza Stark Phenotypes for gene: IL17RC were changed from to Candidiasis, familial, 9, MIM# 616445; MONDO:0014642
Susceptibility to Fungal Infections v0.25 IL17RC Zornitza Stark Publications for gene: IL17RC were set to
Susceptibility to Fungal Infections v0.24 IL17RC Zornitza Stark Mode of inheritance for gene: IL17RC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Fungal Infections v0.23 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
Susceptibility to Fungal Infections v0.23 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from Immunodeficiency 51, MIM# 613953; MONDO:0013500 to Immunodeficiency 51, MIM# 613953; MONDO:0013500
Susceptibility to Fungal Infections v0.22 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from Immunodeficiency 51, MIM# 613953 to Immunodeficiency 51, MIM# 613953; MONDO:0013500
Susceptibility to Fungal Infections v0.21 IL17RA Zornitza Stark Marked gene: IL17RA as ready
Susceptibility to Fungal Infections v0.21 IL17RA Zornitza Stark Gene: il17ra has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v0.21 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from to Immunodeficiency 51, MIM# 613953
Susceptibility to Fungal Infections v0.20 IL17RA Zornitza Stark Publications for gene: IL17RA were set to
Susceptibility to Fungal Infections v0.19 IL17RA Zornitza Stark Mode of inheritance for gene: IL17RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Fungal Infections v0.18 IL17RA Zornitza Stark reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21350122, 27930337; Phenotypes: Immunodeficiency 51, MIM# 613953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Fungal Infections v0.18 CARD9 Zornitza Stark Marked gene: CARD9 as ready
Susceptibility to Fungal Infections v0.18 CARD9 Zornitza Stark Gene: card9 has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v0.18 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
Susceptibility to Fungal Infections v0.17 CARD9 Zornitza Stark Publications for gene: CARD9 were set to
Susceptibility to Fungal Infections v0.16 CARD9 Zornitza Stark Mode of inheritance for gene: CARD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Fungal Infections v0.15 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: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Fungal Infections v0.15 TRAF3IP2 Zornitza Stark Marked gene: TRAF3IP2 as ready
Susceptibility to Fungal Infections v0.15 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Susceptibility to Fungal Infections v0.15 TRAF3IP2 Zornitza Stark Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527
Susceptibility to Fungal Infections v0.14 TRAF3IP2 Zornitza Stark Publications for gene: TRAF3IP2 were set to
Susceptibility to Fungal Infections v0.13 TRAF3IP2 Zornitza Stark Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Fungal Infections v0.12 TRAF3IP2 Zornitza Stark Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Susceptibility to Fungal Infections v0.12 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Susceptibility to Fungal Infections v0.11 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
Susceptibility to Fungal Infections v0.11 IL17F Zornitza Stark Marked gene: IL17F as ready
Susceptibility to Fungal Infections v0.11 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Susceptibility to Fungal Infections v0.11 IL17F Zornitza Stark Phenotypes for gene: IL17F were changed from to Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Susceptibility to Fungal Infections v0.10 IL17F Zornitza Stark Publications for gene: IL17F were set to
Susceptibility to Fungal Infections v0.9 IL17F Zornitza Stark Mode of inheritance for gene: IL17F was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Fungal Infections v0.8 IL17F Zornitza Stark Classified gene: IL17F as Red List (low evidence)
Susceptibility to Fungal Infections v0.8 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Susceptibility to Fungal Infections v0.7 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
Susceptibility to Fungal Infections v0.7 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Susceptibility to Fungal Infections v0.7 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Susceptibility to Fungal Infections v0.7 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31C, autosomal dominant, MIM# 614162; Predisposition to Mucocutaneous Candidiasis
Susceptibility to Fungal Infections v0.6 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Susceptibility to Fungal Infections v0.5 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Fungal Infections v0.4 STAT1 Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23534974, 21714643; Phenotypes: Immunodeficiency 31C, autosomal dominant, MIM# 614162, Predisposition to Mucocutaneous Candidiasis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Fungal Infections v0.4 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Susceptibility to Fungal Infections v0.3 Zornitza Stark Panel name changed from Susceptibility to fungal infections_MelbourneGenomics_VCGS to Susceptibility to Fungal Infections
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Susceptibility to Fungal Infections v0.1 Zornitza Stark Panel name changed from Susceptibility to fungal infections_VCGS to Susceptibility to fungal infections_MelbourneGenomics_VCGS
Susceptibility to Fungal Infections v0.0 TRAF3IP2 Zornitza Stark gene: TRAF3IP2 was added
gene: TRAF3IP2 was added to Susceptibility to fungal infections_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
Susceptibility to Fungal Infections v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Susceptibility to fungal infections_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
Susceptibility to Fungal Infections v0.0 RORC Zornitza Stark gene: RORC was added
gene: RORC was added to Susceptibility to fungal infections_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
Susceptibility to Fungal Infections v0.0 IL17RC Zornitza Stark gene: IL17RC was added
gene: IL17RC was added to Susceptibility to fungal infections_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
Susceptibility to Fungal Infections v0.0 IL17RA Zornitza Stark gene: IL17RA was added
gene: IL17RA was added to Susceptibility to fungal infections_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
Susceptibility to Fungal Infections v0.0 IL17F Zornitza Stark gene: IL17F was added
gene: IL17F was added to Susceptibility to fungal infections_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
Susceptibility to Fungal Infections v0.0 CARD9 Zornitza Stark gene: CARD9 was added
gene: CARD9 was added to Susceptibility to fungal infections_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
Susceptibility to Fungal Infections v0.0 Zornitza Stark Added panel Susceptibility to fungal infections_VCGS