Possible mitochondrial disorder - nuclear genes
Gene: DNA2EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 13 panels
4 reviews
Ivone Leong (Genomics England Curator)
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)
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)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
- OMIM
- 601810
- Clinvar variants
- Variants in DNA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- IUGR and IGF abnormalities
- Intellectual disability
- Fetal anomalies
- Severe microcephaly
- Monogenic short stature
- Undiagnosed metabolic disorders
- Cerebral vascular malformations
History Filter Activity
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