Congenital Myasthenia
Gene: LAMB2
The established gene-disease association is with renal disease; only one individual reported with myasthenic syndrome as part of the phenotype.Created: 30 Jan 2020, 2:34 a.m. | Last Modified: 30 Jan 2020, 2:34 a.m.
Panel Version: 0.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pierson syndrome, MIM# 609049
Publications
Gene: lamb2 has been classified as Red List (Low Evidence).
Phenotypes for gene: LAMB2 were changed from congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations to Pierson syndrome, MIM# 609049; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
Publications for gene: LAMB2 were set to
Gene: lamb2 has been classified as Red List (Low Evidence).
gene: LAMB2 was added gene: LAMB2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations