Defects of intrinsic and innate immunity
Gene: ATG4AEnsemblGeneIds (GRCh38): ENSG00000101844
EnsemblGeneIds (GRCh37): ENSG00000101844
OMIM: 300663, Gene2Phenotype
ATG4A is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 9 Nov 2024, 10:34 a.m. | Last Modified: 9 Nov 2024, 10:37 a.m.
Panel Version: 0.141
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
infectious meningitis MONDO:0004796
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- infectious meningitis MONDO:0004796
- OMIM
- 300663
- Clinvar variants
- Variants in ATG4A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atg4a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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