Optic Atrophy
Gene: ATAD3A

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Optic atrophy reported in individuals with the recurrent de novo missense p.Arg528Trp only at this stage.
Created: 9 Apr 2020, 7:04 a.m. | Last Modified: 9 Apr 2020, 7:04 a.m.

Panel Version: 0.49

Created: 9 Apr 2020, 7:04 a.m.
Last Modified: 9 Apr 2020, 7:04 a.m.
Panel version: 0.49

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27640307 - Recurring de novo missense causing GDD, neuropathy, cardiomyopathy and optic atrophy
Optic atrophy reported in 3/5 families with de novo recurring missense
But NONE of the families with biallelic variants (0/2) - hom missense and biallelic CNV deletion
Fruit fly model -> expression causes loss of mitochondria, a phenotype midly replicated by analysis of a single patient's cells. Dom neg effect suggested

PMID: 28652416 - discusses ^ findings, nothing new
Created: 9 Apr 2020, 1:20 a.m. | Last Modified: 9 Apr 2020, 1:20 a.m.

Panel Version: 0.11

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

Phenotypes
Harel-Yoon syndrome

Publications

PMID: 27640307
28652416

Mode of pathogenicity
Other

Created: 9 Apr 2020, 1:20 a.m.
Last Modified: 9 Apr 2020, 1:20 a.m.
Panel version: 0.11

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Harel-Yoon syndrome, MIM#617183

OMIM

612316

Clinvar variants

Variants in ATAD3A

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene