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| Mendeliome v1.2119 | ATG9A | Bryony Thompson Marked gene: ATG9A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2119 | ATG9A | Bryony Thompson Gene: atg9a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2119 | ATG9A |
Bryony Thompson gene: ATG9A was added gene: ATG9A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ATG9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG9A were set to 35838483 Phenotypes for gene: ATG9A were set to Autophagy-associated immune dysregulation and hyperplasia Review for gene: ATG9A was set to RED Added comment: A single case with compound heterozygous variants was reported. After infection with Epstein-Barr virus (EBV), the patient developed hyperplastic proliferation of T and B cells in the lung and brain and exhibited defects in lymphocyte memory cell populations. In vitro functional assays. Sources: Literature |
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