Defects of intrinsic and innate immunity
Gene: MAP1LC3B2EnsemblGeneIds (GRCh38): ENSG00000258102
EnsemblGeneIds (GRCh37): ENSG00000258102
MAP1LC3B2 is in 2 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Reviewed from PMID: 35748970
No published gene-disease association as of yet.
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 mutation in MAP1LC3B2 (p.L109M)
Sources: OtherCreated: 12 Dec 2023, 11:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related
- Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2
- Clinvar variants
- Variants in MAP1LC3B2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: map1lc3b2 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MAP1LC3B2 were changed from Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2 to Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related; Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: map1lc3b2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: MAP1LC3B2 was added gene: MAP1LC3B2 was added to Defects of innate immunity. Sources: Other 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 Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2 Review for gene: MAP1LC3B2 was set to RED