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Mitochondrial disease

Gene: DNM1L

Green List (high evidence)

DNM1L (dynamin 1 like)
EnsemblGeneIds (GRCh38): ENSG00000087470
EnsemblGeneIds (GRCh37): ENSG00000087470
OMIM: 603850, Gene2Phenotype
DNM1L is in 8 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association
Created: 14 May 2022, 12:30 p.m. | Last Modified: 14 May 2022, 12:30 p.m.
Panel Version: 0.14291

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR); Optic atrophy 5 - MIM#610708 (AD)

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
OMIM
603850
Clinvar variants
Variants in DNM1L
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNM1L was added gene: DNM1L was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: DNM1L was set to Unknown