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Severe Paediatric Disorders

Gene: DNM1L

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DNM1L; Recommended initial gene rating: Green List (high evidence); Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3) | Optic atrophy 5, 610708 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene DNM1L were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to DNM1L.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to DNM1L. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DNM1L was added gene: DNM1L was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DNM1L was set to