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| Mendeliome v1.1436 | MAP1LC3B2 | Zornitza Stark Marked gene: MAP1LC3B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1436 | MAP1LC3B2 | Zornitza Stark Gene: map1lc3b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1436 | MAP1LC3B2 |
Zornitza Stark gene: MAP1LC3B2 was added gene: MAP1LC3B2 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: MAP1LC3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP1LC3B2 were set to 35748970; 33310865 Phenotypes for gene: MAP1LC3B2 were set to Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related; Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2 Review for gene: MAP1LC3B2 was set to RED Added comment: PMID: 35748970 Affects CNS (resident cells and fibroblasts) Impaired autophagy induction after HSV2 infection - increased viral replication and apoptosis of patient fibroblasts. PMID: 33310865 one affected individual with heterozygous variant in MAP1LC3B2 (p.L109M) Sources: Expert Review |
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