Mitochondrial DNA maintenance disorder
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. Gene Symbol submitted: TDNA2; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:28 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
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Likely inborn error of metabolism
- DDG2P
- IUGR and IGF abnormalities
- Undiagnosed metabolic disorders
- Possible mitochondrial disorder - nuclear genes
- Cerebral vascular malformations
- Severe microcephaly
- Monogenic short stature
- Intellectual disability
- Fetal anomalies
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 Mitochondrial DNA maintenance disorder. 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