Defects of intrinsic and innate immunity

Gene: ATG4A

Red List (low evidence)

ATG4A (autophagy related 4A cysteine peptidase)
EnsemblGeneIds (GRCh38): ENSG00000101844
EnsemblGeneIds (GRCh37): ENSG00000101844
OMIM: 300663, Gene2Phenotype
ATG4A is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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
Created: 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

9 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atg4a has been classified as Red List (Low Evidence).

9 Nov 2024, Gel status: 1

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