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| Mendeliome v1.2218 | ATG4A | Bryony Thompson Marked gene: ATG4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2218 | ATG4A | Bryony Thompson Gene: atg4a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2218 | ATG4A |
Bryony Thompson gene: ATG4A was added gene: ATG4A was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ATG4A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ATG4A were set to 33310865 Phenotypes for gene: ATG4A were set to infectious meningitis MONDO:0004796 Review for gene: ATG4A was set to RED Added comment: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile). Sources: Expert list |
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