PLEC

plectin
OMIM: 601282, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PLEC in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.15	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670 Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138 Epidermolysis bullosa simplex, Ogna type, MIM# 131950
Green PLEC in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Epidermolysis bullosa simplex with nail dystrophy, MIM# 616487 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670 Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138 Epidermolysis bullosa simplex, Ogna type MIM#131950 Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
Green PLEC 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)
Green PLEC 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 Expert Review Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670
Green PLEC in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes epidermolysis bullosa congenital myasthenic syndrome
Green PLEC 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 Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Green PLEC in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy Epidermolysis bullosa simplex
Green PLEC in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670 Epidermolysis bullosa simplex 5A, Ogna type MIM#131950 Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)
Green PLEC in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Red PLEC in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Epidermolysis bullosa simplex, Ogna type MIM#131950 Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723 Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670