PLEC

plectin
OMIM: 601282, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber PLEC in Cholestasis Level 2: Gastroenterological disorders Version 1.5 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related
Green PLEC in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.22	1 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 1.3512	2 reviews	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 Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related
Green PLEC 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	4 reviews	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 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	4 reviews	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 1.18 Component of the following Super Panels: Neuromuscular Superpanel	1 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 0.110	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy Epidermolysis bullosa simplex
Green PLEC in Fetal anomalies Version 1.465	1 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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487 Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670 Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138 Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
Red PLEC in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes 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