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| Severe Paediatric Disorders v0.12 | PLEC | Louise Daugherty reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | PLEC | Louise Daugherty Publications for gene PLEC were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | PLEC | Louise Daugherty Mode of inheritance for gene PLEC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | PLEC | Louise Daugherty Added 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 for gene: PLEC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | PLEC | Louise Daugherty Added 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 for gene: PLEC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | PLEC | Louise Daugherty Added 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 for gene: PLEC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | PLEC | Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723; ?Epidermolysis bullosa simplex with nail dystrophy, 616487; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138; Epidermolysis bullosa simplex with muscular dystrophy, 226670 for gene: PLEC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | PLEC | Louise Daugherty Source Next Generation Children Project was added to PLEC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | PLEC |
Louise Daugherty Source Expert Review Green was added to PLEC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | PLEC |
Louise Daugherty gene: PLEC was added gene: PLEC was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PLEC was set to |
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