Mitochondrial disease

Gene: DNA2

Green List (high evidence)

For AR Seckel syndrome:
Three families described with bi-allelic variants in this gene and a primordial dwarfism/Seckel syndrome phenotype.

For AD PEO:
It has been suggested that heterozygous PTCs are associated with early onset severe disease compared to heterozygous missense.

Created: 9 May 2022, 2:23 a.m. | Last Modified: 9 May 2022, 2:23 a.m.

Panel Version: 0.13956

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156

Publications

• 24389050
• 31045292
• 23352259
• 25635128
• 28554558

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