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Hyper-IgE syndrome v1.5 Zornitza Stark HPO terms changed from to Increased circulating IgE level, HP:0003212
Hyper-IgE syndrome v1.4 Zornitza Stark List of related panels changed from to Increased circulating IgE level; HP:0003212
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hyper-IgE syndrome v1.3 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
Hyper-IgE syndrome v1.3 IL6ST Zornitza Stark Marked gene: IL6ST as ready
Hyper-IgE syndrome v1.3 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Hyper-IgE syndrome v1.3 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Dominant Negative Hyper IgE syndrome to Hyper-IgE recurrent infection syndrome 4A, autosomal dominant , MIM#619752; Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523
Hyper-IgE syndrome v1.2 IL6ST Zornitza Stark Publications for gene: IL6ST were set to PMID: 32207811
Hyper-IgE syndrome v1.2 IL6ST Zornitza Stark Mode of inheritance for gene: IL6ST was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyper-IgE syndrome v1.1 IL6ST Zornitza Stark Classified gene: IL6ST as Green List (high evidence)
Hyper-IgE syndrome v1.1 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Hyper-IgE syndrome v1.0 IL6ST Zornitza Stark reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 33771552, 30309848, 28747427, 32207811; Phenotypes: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant , MIM#619752, Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyper-IgE syndrome v1.0 IL6ST Peter McNaughton gene: IL6ST was added
gene: IL6ST was added to Hyper-IgE syndrome. Sources: Literature
Mode of inheritance for gene: IL6ST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IL6ST were set to PMID: 32207811
Phenotypes for gene: IL6ST were set to Dominant Negative Hyper IgE syndrome
Penetrance for gene: IL6ST were set to unknown
Mode of pathogenicity for gene: IL6ST was set to Other
Review for gene: IL6ST was set to GREEN
Added comment: Sources: Literature
Hyper-IgE syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Hyper-IgE syndrome v0.41 ZNF341 Zornitza Stark Marked gene: ZNF341 as ready
Hyper-IgE syndrome v0.41 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.41 ZNF341 Zornitza Stark Classified gene: ZNF341 as Green List (high evidence)
Hyper-IgE syndrome v0.41 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.40 ZNF341 Zornitza Stark gene: ZNF341 was added
gene: ZNF341 was added to Hyper-IgE syndrome. Sources: Expert Review
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907691; 29907690
Phenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Mild facial dysmorphism; Early onset eczema; Recurrent bacterial skin infections, abscesses; Recurrent respiratory infections, lung abscesses and pneumothoraces; Hyperextensible joints, bone fractures, retention of primary teeth
Review for gene: ZNF341 was set to GREEN
Added comment: 19 individuals from 10 families reported, some sharing the same homozygous variants (at least 4 different LoF variants reported).
Sources: Expert Review
Hyper-IgE syndrome v0.39 WAS Zornitza Stark Marked gene: WAS as ready
Hyper-IgE syndrome v0.39 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.39 WAS Zornitza Stark Phenotypes for gene: WAS were changed from to Thrombocytopaenia, X-linked, MIM# 313900
Hyper-IgE syndrome v0.38 WAS Zornitza Stark Publications for gene: WAS were set to
Hyper-IgE syndrome v0.37 WAS Zornitza Stark Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hyper-IgE syndrome v0.36 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 34390440; Phenotypes: Thrombocytopenia, X-linked, MIM# 313900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hyper-IgE syndrome v0.36 TYK2 Zornitza Stark Marked gene: TYK2 as ready
Hyper-IgE syndrome v0.36 TYK2 Zornitza Stark Gene: tyk2 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.36 TYK2 Zornitza Stark Marked gene: TYK2 as ready
Hyper-IgE syndrome v0.36 TYK2 Zornitza Stark Gene: tyk2 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.36 TYK2 Zornitza Stark Phenotypes for gene: TYK2 were changed from to Immunodeficiency 35, MIM# 611521
Hyper-IgE syndrome v0.35 TYK2 Zornitza Stark Publications for gene: TYK2 were set to
Hyper-IgE syndrome v0.34 TYK2 Zornitza Stark Mode of inheritance for gene: TYK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.33 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
Hyper-IgE syndrome v0.33 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Hyper-IgE syndrome v0.33 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.33 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, MIM# 256500
Hyper-IgE syndrome v0.32 SPINK5 Zornitza Stark Publications for gene: SPINK5 were set to
Hyper-IgE syndrome v0.31 SPINK5 Zornitza Stark Mode of inheritance for gene: SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.30 SPINK5 Zornitza Stark reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712206, 15590704, 31977080; Phenotypes: Netherton syndrome, MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.30 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Hyper-IgE syndrome v0.30 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.30 WIPF1 Zornitza Stark Phenotypes for gene: WIPF1 were changed from to Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent
Hyper-IgE syndrome v0.29 WIPF1 Zornitza Stark Publications for gene: WIPF1 were set to
Hyper-IgE syndrome v0.28 WIPF1 Zornitza Stark Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.27 WIPF1 Danielle Ariti reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22231303, 27742395, 11869681, 14757742; Phenotypes: Wiskott-Aldrich syndrome 2 MIM# 614493, Reduced T cells, defective lymphocyte responses to anti-CD3, high IgE, Thrombocytopenia with or without small platelets, recurrent bacterial and viral Infections, eczema, bloody diarrhoea, gastrointestinal bleeding, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.27 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Hyper-IgE syndrome v0.27 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.27 STAT3 Zornitza Stark Phenotypes for gene: STAT3 were changed from to Hyper-IgE recurrent infection syndrome MIM# 147060; NKT cells decreased; Very high IgE, specific antibody production decreased; Distinctive facial features (broad nasal bridge); bacterial infections; staphylococcal abscesses; eczema; mucocutaneous candidiasis; hyperextensible joints; osteoporosis and bone fractures; scoliosis; retained primary teeth; coronary and cerebral aneurysms
Hyper-IgE syndrome v0.26 STAT3 Zornitza Stark Publications for gene: STAT3 were set to
Hyper-IgE syndrome v0.25 STAT3 Zornitza Stark Mode of inheritance for gene: STAT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyper-IgE syndrome v0.24 STAT3 Danielle Ariti reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17881745, 14566054, 15194489; Phenotypes: Hyper-IgE recurrent infection syndrome MIM# 147060, NKT cells decreased, Very high IgE, specific antibody production decreased, Distinctive facial features (broad nasal bridge), bacterial infections, staphylococcal abscesses, eczema, mucocutaneous candidiasis, hyperextensible joints, osteoporosis and bone fractures, scoliosis, retained primary teeth, coronary and cerebral aneurysms; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyper-IgE syndrome v0.24 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Hyper-IgE syndrome v0.24 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.24 DOCK8 Zornitza Stark Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700; T cell Lymphopaenia; decraese T/B/NK cells; Eosinophilia; low IgM; elevated IgE; recurrent cutaneous/ viral/ bacterial/ fungal/ infections; severe atopy/allergic disease; autoimmune haemolytic anaemia; eczema; cancer diathesis
Hyper-IgE syndrome v0.23 DOCK8 Zornitza Stark Publications for gene: DOCK8 were set to
Hyper-IgE syndrome v0.22 DOCK8 Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.21 DOCK8 Danielle Ariti reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 19776401, 20622910, 21931011, 26659092, 19898472, 25422492; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700, T cell Lymphopaenia, decraese T/B/NK cells, Eosinophilia, low IgM, elevated IgE, recurrent cutaneous/ viral/ bacterial/ fungal/ infections, severe atopy/allergic disease, autoimmune haemolytic anaemia, eczema, cancer diathesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.21 DSG1 Bryony Thompson Marked gene: DSG1 as ready
Hyper-IgE syndrome v0.21 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.21 DSG1 Bryony Thompson Classified gene: DSG1 as Green List (high evidence)
Hyper-IgE syndrome v0.21 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.20 DSG1 Bryony Thompson Classified gene: DSG1 as Green List (high evidence)
Hyper-IgE syndrome v0.20 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.19 DSG1 Bryony Thompson gene: DSG1 was added
gene: DSG1 was added to Hyper-IgE syndrome. Sources: Other
Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 23974871; 32126589; 29604126
Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE MIM#615508
Review for gene: DSG1 was set to GREEN
Added comment: >3 unrelated families reported with elevated IgE levels, and apparently only one case without elevated IgE. It's speculated that DSG1 deficiency generates impaired desmosome formation, abnormal differentiation, and acantholysis, resulting in compromised epidermal barrier function and exposing the immune system to abnormal stimulation.
Sources: Other
Hyper-IgE syndrome v0.18 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Hyper-IgE syndrome v0.18 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Hyper-IgE syndrome v0.18 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Hyper-IgE syndrome v0.17 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Hyper-IgE syndrome v0.16 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.15 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.15 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Hyper-IgE syndrome v0.15 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Hyper-IgE syndrome v0.15 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Hyper-IgE syndrome v0.14 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Hyper-IgE syndrome v0.14 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Hyper-IgE syndrome v0.13 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Hyper-IgE syndrome v0.13 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Hyper-IgE syndrome v0.13 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Red List (Low Evidence).
Hyper-IgE syndrome v0.13 GTF2H5 Zornitza Stark Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395
Hyper-IgE syndrome v0.12 GTF2H5 Zornitza Stark Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.11 GTF2H5 Zornitza Stark Classified gene: GTF2H5 as Red List (low evidence)
Hyper-IgE syndrome v0.11 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Red List (Low Evidence).
Hyper-IgE syndrome v0.10 GTF2H5 Zornitza Stark edited their review of gene: GTF2H5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.10 GTF2H5 Zornitza Stark reviewed gene: GTF2H5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: None
Hyper-IgE syndrome v0.10 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Hyper-IgE syndrome v0.10 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Red List (Low Evidence).
Hyper-IgE syndrome v0.10 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Hyper-IgE syndrome v0.9 ERCC3 Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.8 ERCC3 Zornitza Stark Classified gene: ERCC3 as Red List (low evidence)
Hyper-IgE syndrome v0.8 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Red List (Low Evidence).
Hyper-IgE syndrome v0.7 ERCC3 Zornitza Stark reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: None
Hyper-IgE syndrome v0.7 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Hyper-IgE syndrome v0.7 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Red List (Low Evidence).
Hyper-IgE syndrome v0.7 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Trichothiodystrophy 1, photosensitive, MIM# 601675; Xeroderma pigmentosum, group D 27, MIM#8730
Hyper-IgE syndrome v0.6 ERCC2 Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.5 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Hyper-IgE syndrome v0.4 ERCC2 Zornitza Stark Classified gene: ERCC2 as Red List (low evidence)
Hyper-IgE syndrome v0.4 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Red List (Low Evidence).
Hyper-IgE syndrome v0.3 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: None; Publications: 11737070; Phenotypes: Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D 27, MIM#8730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyper-IgE syndrome v0.3 Zornitza Stark Panel name changed from Hyper-IgE syndrome_MelbourneGenomics_VCGS to Hyper-IgE syndrome
Panel types changed to Victorian Clinical Genetics Services
Hyper-IgE syndrome v0.1 Zornitza Stark Panel name changed from Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS to Hyper-IgE syndrome_MelbourneGenomics_VCGS
Hyper-IgE syndrome v0.0 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: WIPF1 was set to Unknown
Hyper-IgE syndrome v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: WAS was set to Unknown
Hyper-IgE syndrome v0.0 TYK2 Zornitza Stark gene: TYK2 was added
gene: TYK2 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TYK2 was set to Unknown
Hyper-IgE syndrome v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STAT3 was set to Unknown
Hyper-IgE syndrome v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SPINK5 was set to Unknown
Hyper-IgE syndrome v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PGM3 was set to Unknown
Hyper-IgE syndrome v0.0 NFKBID Zornitza Stark gene: NFKBID was added
gene: NFKBID was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFKBID was set to Unknown
Hyper-IgE syndrome v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: GTF2H5 was set to Unknown
Hyper-IgE syndrome v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ERCC3 was set to Unknown
Hyper-IgE syndrome v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ERCC2 was set to Unknown
Hyper-IgE syndrome v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: DOCK8 was set to Unknown
Hyper-IgE syndrome v0.0 Zornitza Stark Added panel Hyper-IgE syndrome_MelbourneGenomics_AustralianGenomics_VCGS