Mitochondrial disease

Gene: ATAD3A

Green List (high evidence)

Mode of pathogenicity includes:
i) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter
ii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene

Created: 28 Apr 2020, 5:39 a.m. | Last Modified: 28 Apr 2020, 5:39 a.m.

Panel Version: 0.439

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810

Publications

• 28549128

Mode of pathogenicity
Other

Green List (high evidence)

One family with recessive variants; 5 with de novo heterozygous variants; note recent publication of disease arising from a complex structural rearrangement.

Created: 2 Feb 2020, 3:22 a.m. | Last Modified: 2 Feb 2020, 3:22 a.m.

Panel Version: 0.47

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Harel-Yoon syndrome 617183

Publications

• 27640307
• 32004445