DNA2 Chromosome 10

DNA replication helicase/nuclease 2

31 variants 31 Health Risk

Upload your DNA to see your personal genotypes for variants in DNA2.

What This Gene Does

This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

Gene Info

Gene Group

UPF1 like RNA helicases

Locus Type

gene with protein product

Location

10q21.3

Ensembl

ENSG00000138346

Associated Conditions (8)

Mitochondrial DNA deletion syndrome with progressive myopathy

Inborn genetic diseases

DNA2-related disorder

Microcephaly

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome type 4

Seckel syndrome 8

Ateleiotic dwarfism

Key Variants

RS1211027535

Conflicting classifications of pathogenicity

Health Risk

RS1272393477

Conflicting classifications of pathogenicity

Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy

Health Risk

RS1415432326

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS149606167

Conflicting classifications of pathogenicity

Health Risk

RS182312393

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS200309792

Conflicting classifications of pathogenicity

Microcephaly, DNA2-related disorder, Microcephaly

Health Risk

RS200467869

Conflicting classifications of pathogenicity

Health Risk

RS200584135

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS201513130

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS201999986

Conflicting classifications of pathogenicity

Health Risk

RS368855073

Conflicting classifications of pathogenicity

Health Risk

RS376453519

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (31)

RSID	Category	Clinical Significance	Conditions
RS1211027535	Health Risk	Conflicting classifications of pathogenicity	—
RS1272393477	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS1415432326	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS149606167	Health Risk	Conflicting classifications of pathogenicity	DNA2-related disorder, Inborn genetic diseases, DNA2-related disorder
RS182312393	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS200309792	Health Risk	Conflicting classifications of pathogenicity	Microcephaly, DNA2-related disorder, Microcephaly
RS200467869	Health Risk	Conflicting classifications of pathogenicity	—
RS200584135	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS201513130	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS201999986	Health Risk	Conflicting classifications of pathogenicity	DNA2-related disorder, Inborn genetic diseases, DNA2-related disorder
RS368855073	Health Risk	Conflicting classifications of pathogenicity	—
RS376453519	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS530452383	Health Risk	Conflicting classifications of pathogenicity	—
RS563046954	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS575412271	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS745893364	Health Risk	Conflicting classifications of pathogenicity	—
RS747618371	Health Risk	Conflicting classifications of pathogenicity	DNA2-related disorder, DNA2-related disorder
RS751031650	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS768077989	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS770255439	Health Risk	Conflicting classifications of pathogenicity	—
RS777604935	Health Risk	Conflicting classifications of pathogenicity	—
RS1554911807	Health Risk	Likely pathogenic	Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS1590054876	Health Risk	Likely pathogenic	Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS1590055107	Health Risk	Likely pathogenic	—
RS2494019349	Health Risk	Likely pathogenic	Rothmund-Thomson syndrome, Rothmund-Thomson syndrome type 4, Rothmund-Thomson syndrome
RS2494022602	Health Risk	Likely pathogenic	Seckel syndrome 8, Seckel syndrome 8
RS376624048	Health Risk	Likely pathogenic	Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS2493927502	Health Risk	Pathogenic	Seckel syndrome 8, Seckel syndrome 8
RS2493999571	Health Risk	Pathogenic	Rothmund-Thomson syndrome, Rothmund-Thomson syndrome type 4, Rothmund-Thomson syndrome
RS1469135249	Health Risk	Pathogenic/Likely pathogenic	Rothmund-Thomson syndrome, Rothmund-Thomson syndrome type 4, Rothmund-Thomson syndrome
RS587777614	Health Risk	Pathogenic/Likely pathogenic	Seckel syndrome 8, Ateleiotic dwarfism, Seckel syndrome 8