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| 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 |
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