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Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson Marked gene: ATG4A as ready
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson Gene: atg4a has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson changed review comment from: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile).
Sources: Expert list; to: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile). Classified as a defect of intrinsic and innate immunity by IUIS and included on their list of IEIs.
Sources: Expert list
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson gene: ATG4A was added
gene: ATG4A was added to Defects of innate immunity. 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