Disorders of immune dysregulation
Gene: ATG9A
ATG9A (autophagy related 9A)
EnsemblGeneIds (GRCh38): ENSG00000198925
EnsemblGeneIds (GRCh37): ENSG00000198925
OMIM: 612204, Gene2Phenotype
ATG9A is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000198925
EnsemblGeneIds (GRCh37): ENSG00000198925
OMIM: 612204, Gene2Phenotype
ATG9A is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 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