Rhabdomyolysis and Metabolic Myopathy
Gene: DNA2EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 9 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation.Created: 8 May 2024, 9:19 p.m. | Last Modified: 8 May 2024, 9:19 p.m.
Panel Version: 1.1774
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome, type 4, MIM# 620819
Publications
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: AD PEO phenotype includes mitochondrial myopathy, which can present with rhabdomyolysis and exercise intoleranceCreated: 12 Apr 2023, 6:06 a.m. | Last Modified: 12 Apr 2023, 6:06 a.m.
Panel Version: 0.102
Ain Roesley (Victorian Clinical Genetics Services)
For AR Seckel syndrome:
Three families described with bi-allelic variants in this gene and a primordial dwarfism/Seckel syndrome phenotype.
For AD PEO:
It has been suggested that heterozygous PTCs are associated with early onset severe disease compared to heterozygous missense.Created: 9 May 2022, 2:23 a.m. | Last Modified: 9 May 2022, 2:23 a.m.
Panel Version: 0.13956
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
- OMIM
- 601810
- Clinvar variants
- Variants in DNA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: DNA2 were set to 31636600
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dna2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dna2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DNA2 was added gene: DNA2 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNA2 were set to 31636600 Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Review for gene: DNA2 was set to RED