DYSF

dysferlin
OMIM: 603009, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green DYSF in Mendeliome Version 1.1891	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 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	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 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	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 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	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 0.109	review	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	review	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Red DYSF in BabyScreen+ newborn screening Level 2: Screening Version 1.113	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 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601 (3)