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Possible mitochondrial disorder - nuclear genes

Gene: DNA2

Green List (high evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

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

Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156

Publications

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

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: DNA2 was added gene: DNA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNA2 were set to 23352259 Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156