PanelApp (stage)
  1. Genes and Genomic Entities
  2. DNM1L

DNM1L

dynamin 1 like
OMIM: 603850, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green DNM1L in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR)
  • Optic atrophy 5 - MIM#610708 (AD)

Amber DNM1L in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388

Green DNM1L in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.32

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Optic atrophy 5 (MIM#610708)

    Green DNM1L in Peroxisomal Disorders


    Level 2: Metabolic disorders
    Version 0.53

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DNM1L in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR)

    Green DNM1L in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Green DNM1L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388

    Green DNM1L in Fetal anomalies


    Version 1.255

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388