DNM1L

dynamin 1 like
OMIM: 603850, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green DNM1L in Mendeliome


Version 1.3512

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Literature
  • Expert Review Green
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726
  • Optic atrophy 5 - MIM#610708 (AD)

Amber DNM1L in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

2 reviews 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 1.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 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 0.56

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • ClinGen
    • Literature
    • Expert Review Green
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726

    Green DNM1L in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Literature
    • ClinGen
    • Expert Review Green
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726

    Green DNM1L in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Literature
    • ClinGen
    • Expert Review Green
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726

    Green DNM1L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Literature
    • ClinGen
    • Expert Review Green
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726

    Green DNM1L in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388

    Green DNM1L in Fetal anomalies


    Version 1.465

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Literature
    • ClinGen
    • Expert Review Green
    Phenotypes
    • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726