Mitochondrial disorders
Gene: DNM1L

DNM1L (dynamin 1 like)
EnsemblGeneIds (GRCh38): ENSG00000087470
EnsemblGeneIds (GRCh37): ENSG00000087470
OMIM: 603850, Gene2Phenotype
DNM1L is in 11 panels

3 reviews

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

Created: 12 Jul 2016, 2 p.m.

Panel version: 1.3

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.

Created: 7 Mar 2016, 5:48 p.m.

Panel version: 0.487

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert

Phenotypes

Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388

OMIM

603850

Clinvar variants

Variants in DNM1L

Penetrance

Complete

Publications

PMID: 26825290
17460227

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to DNM1L. Panel: Mitochondrial disorders

7 Mar 2016, Gel status: 4