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| 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 v0.0 | 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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