Peroxisomal disorders

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reported
Created: 22 Aug 2016, 10:13 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 614388
OMIM
603850
Clinvar variants
Variants in DNM1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for DNM1L was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DNM1L were set to 27328748; 27145208; 26992161; 26825290

22 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DNM1L were set to 27328748

22 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DNM1L were set to Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 614388

22 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for DNM1L was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

DNM1L was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory

22 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

DNM1L was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Other

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DNM1L was created by sleigh

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DNM1L was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen