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| Mendeliome v1.2803 | ATG2A | Krithika Murali Marked gene: ATG2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2803 | ATG2A | Krithika Murali Gene: atg2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2803 | ATG2A |
Krithika Murali gene: ATG2A was added gene: ATG2A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ATG2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG2A were set to PMID:40631414 Phenotypes for gene: ATG2A were set to complex neurodevelopmental disorder, ATG2A-related - MONDO:0100038 Review for gene: ATG2A was set to RED Added comment: PMID:40631414 report a 3 yo F with homozygous ATG2A missense variant (c.1372G>C (p.Gly433Ala) with developmental regression, seizures, cerebellar ataxia, and MRI-brain abnormalities (diffuse cerebral and cerebellar atrophy). Provide supportive functional evidence. Sources: Literature |
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