Disorders of immune dysregulation

Gene: ATG9A

Red List (low evidence)

ATG9A (autophagy related 9A)
EnsemblGeneIds (GRCh38): ENSG00000198925
EnsemblGeneIds (GRCh37): ENSG00000198925
OMIM: 612204, Gene2Phenotype
ATG9A is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case with compound heterozygous variants was reported. After infection with Epstein-Barr virus (EBV), the patient developed hyperplastic proliferation of T and B cells in the lung and brain and exhibited defects in lymphocyte memory cell populations. In vitro functional assays.
Sources: Literature
Created: 10 Nov 2024, 12:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autophagy-associated immune dysregulation and hyperplasia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Autophagy-associated immune dysregulation and hyperplasia
OMIM
612204
Clinvar variants
Variants in ATG9A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atg9a has been classified as Red List (Low Evidence).

10 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATG9A was added gene: ATG9A was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: ATG9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG9A were set to 35838483 Phenotypes for gene: ATG9A were set to Autophagy-associated immune dysregulation and hyperplasia Review for gene: ATG9A was set to RED