Mitochondrial disorders
Gene: DNA2

DNA2 (DNA replication helicase/nuclease 2)
EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 13 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM, and not on the imprinted gene list.
Created: 10 Feb 2016, 12:13 p.m.

Comment on list classification: Both reviewers agree this should be a green gene, and one reports variants within this gene as part of current diagnostic practice.
Created: 10 Feb 2016, 12:12 p.m.

Created: 10 Feb 2016, 12:12 p.m.

Panel version: 0.162

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Disorders of mitochondrial DNA maintenance and integrity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
615156

OMIM

601810

Clinvar variants

Variants in DNA2

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to DNA2. Panel: Mitochondrial disorders

10 Feb 2016, Gel status: 4