PLEC

plectin
OMIM: 601282, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red PLEC in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.5	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487 Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Green PLEC in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.11	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487 Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Green PLEC in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950 Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670 Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138
Red PLEC in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487 Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Green PLEC in Congenital muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.24 Latest signed off version: v4.23 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Red PLEC in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Expert list Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670
Green PLEC in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.6 Latest signed off version: v4.5 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Literature Phenotypes Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags monogenic-polygenic
Green PLEC in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.33 Latest signed off version: v4.32 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Green PLEC in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA 612138
Red PLEC in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, OMIM:616487 Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138 Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723
Green PLEC in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 Epidermolysis bullosa simplex with muscular dystrophy, 226670 ?Epidermolysis bullosa simplex with nail dystrophy, 616487 Epidermolysis bullosa simplex, Ogna type, 131950 Epidermolysis bullosa simplex with pyloric atresia, 612138