PanelApp
  1. Genes and Genomic Entities
  2. DYSF

DYSF

dysferlin
OMIM: 603009, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green DYSF in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Miyoshi muscular dystrophy 1 254130
  • Muscular dystrophy, limb-girdle, autosomal recessive 2 253601
  • Myopathy, distal, with anterior tibial onset 606768

Green DYSF in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

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

    Green DYSF in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Myopathy, distal, with anterior tibial onset, 606768
    • Miyoshi muscular dystrophy 1, 254130
    • Muscular dystrophy, limb-girdle, type 2B, 253601

    Green DYSF in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2B 253601
    • Myopathy, distal, with anterior tibial onset 606768
    • Miyoshi muscular dystrophy 1 254130

    Green DYSF in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2B, 253601 (3)

    Green DYSF in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Miyoshi muscular dystrophy 1
    • Muscular dystrophy, limb-girdle, type 2B

    Green DYSF in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Miyoshi muscular dystrophy 1 MIM#254130
    • MONDO:0024545
    • Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601
    • MONDO:0009676
    • Myopathy, distal, with anterior tibial onset MIM#606768
    • MONDO:0011721

    Red DYSF in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Miyoshi muscular dystrophy 1 254130
    • Muscular dystrophy, limb-girdle, autosomal recessive 2 253601
    • Myopathy, distal, with anterior tibial onset 606768

    Green DYSF in Prepair 500+


    Level 2: Screening
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Miyoshi muscular dystrophy 1 MIM#254130
    • MONDO:0024545
    • Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601
    • MONDO:0009676
    • Myopathy, distal, with anterior tibial onset MIM#606768
    • MONDO:0011721