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Possible mitochondrial disorder - nuclear genes

Gene: DNM1L

Green List (high evidence)

DNM1L (dynamin 1 like)
EnsemblGeneIds (GRCh38): ENSG00000087470
EnsemblGeneIds (GRCh37): ENSG00000087470
OMIM: 603850, Gene2Phenotype
DNM1L is in 11 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; Optic atrophy 5, 610708

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Monoallelic = de novo dominant mutations - dominant negative effect
Biallelic = loss of function mutations
Created: 12 Jul 2016, 2 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Mode of pathogenicity
Other

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Carl Fratter also agrees this should be green.
Created: 7 Mar 2016, 5:48 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
  • Optic atrophy 5, 610708
OMIM
603850
Clinvar variants
Variants in DNM1L
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: DNM1L was added gene: DNM1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; Optic atrophy 5, 610708