1. Panels
  2. Autoinflammatory Disorders
  3. ATAD3A
STRs in panel
Prev Next
Regions in panel
Prev Next

Autoinflammatory Disorders

Gene: ATAD3A

Green List (high evidence)
ATAD3A (ATPase family, AAA domain containing 3A)
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Elevated interferon-stimulated gene expression and increased serum type 1 IFNs were identified in both cases with monoallelic and biallelic variants. Classified as an inborn error of immunity (type 1 interferonopathy) by IUIS in the July 2024 IEI update.
Sources: Expert list
Created: 9 Nov 2024, 10:08 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
inborn error of immunity MONDO:0003778; Harel-Yoon syndrome MONDO:0014958

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Nov 2024, 10:08 a.m.

Panel version: 1.55

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • inborn error of immunity MONDO:0003778
  • Harel-Yoon syndrome MONDO:0014958
OMIM
612316
Clinvar variants
Variants in ATAD3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atad3a has been classified as Green List (High Evidence).

9 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atad3a has been classified as Green List (High 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: ATAD3A was added gene: ATAD3A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 34387651 Phenotypes for gene: ATAD3A were set to inborn error of immunity MONDO:0003778; Harel-Yoon syndrome MONDO:0014958 Review for gene: ATAD3A was set to GREEN gene: ATAD3A was marked as current diagnostic