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Congenital myaesthenic syndrome v2.28 PLEC Ivone Leong Phenotypes for gene: PLEC were changed from Congenital myasthenic syndrome; Plectin deficiency; myasthenic syndrome; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) to Congenital myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Congenital myaesthenic syndrome v1.34 PLEC Louise Daugherty reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 PLEC Michael Oldridge reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, Plectin deficiency, myasthenic syndrome, Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) 226670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 PLEC Louise Daugherty Source NHS GMS was added to PLEC.
Congenital myaesthenic syndrome v1.12 PLEC Louise Daugherty Source Wessex and West Midlands GLH was added to PLEC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome PLEC Rebecca Foulger classified PLEC as green
Congenital myaesthenic syndrome PLEC Rebecca Foulger classified PLEC as amber
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC