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Primary immunodeficiency

Gene: ATG4A

Red List (low evidence)

ATG4A (autophagy related 4A cysteine peptidase)
EnsemblGeneIds (GRCh38): ENSG00000101844
EnsemblGeneIds (GRCh37): ENSG00000101844
OMIM: 300663, Gene2Phenotype
ATG4A is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID:33310865 with recurrent herpes simplex virus 2-induced lymphocytic Mollaret's meningitis, and a ATG4A variant (c.268C>A) supported by functional data. Rating Red, awaiting further evidence.
Created: 1 Apr 2021, 10:07 a.m. | Last Modified: 1 Apr 2021, 10:07 a.m.
Panel Version: 2.403

Boaz Palterer (University of Florence)

Red List (low evidence)

Hait et al. described a single patient with a rare heterozygous variant in ATG4 presenting with recurrent HSV2 meningitis (Mollaret's meningitis). They showed that the mutations caused impaired HSV2-induced autophagy leading to increased viral replication and apoptosis of patient fibroblasts. The defect was rescued by the introduction of WT ATG4 into patient fibroblasts.
Sources: Literature
Created: 24 Feb 2021, 10:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mollaret’s meningitis; recurrent HSV2 meningitis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Mollaret’s meningitis
  • recurrent HSV2 meningitis
OMIM
300663
Clinvar variants
Variants in ATG4A
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

24 Feb 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

gene: ATG4A was added gene: ATG4A was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ATG4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATG4A were set to 33310865 Phenotypes for gene: ATG4A were set to Mollaret’s meningitis; recurrent HSV2 meningitis Penetrance for gene: ATG4A were set to unknown Review for gene: ATG4A was set to RED