| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyper-IgE syndrome v1.3 | DOCK8 | Zornitza Stark Tag treatable tag was added to gene: DOCK8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.0 | 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 |
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| 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 |
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| 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 v0.34 | TYK2 | Zornitza Stark Mode of inheritance for gene: TYK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 v0.28 | 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 v0.25 | STAT3 | Zornitza Stark Mode of inheritance for gene: STAT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyper-IgE syndrome v0.22 | DOCK8 | Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 v0.12 | GTF2H5 | Zornitza Stark Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.6 | ERCC2 | Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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