Congenital myaesthenic syndrome
Gene: LAMB2
Leave as Red, awaiting more information on this gene and potential disease association.Created: 16 Oct 2019, 11:18 a.m. | Last Modified: 16 Oct 2019, 11:18 a.m.
Panel Version: 1.54
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 30 Apr 2019, 9:30 a.m.
Maselli et al showed comp het mutations. muscle biopsy showed abnormalities of NMJ. Majority of reported mutations cause nephrotic syndromes. Not enough evidence for Green.Created: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations; synaptic congenital myasthenic syndrome
Publications
Currently only 1 reported case: PMID:19251977 (Maselli et al., 2009) report compound heterozygous LAMB2 mutations ((1478delG and 4804delC) in 1 patient with congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations. Each mutation was inherited from an unaffected parent. Both mutations resulted in premature termination with no protein expression.Created: 6 Feb 2017, 11:02 a.m.
Publications for gene: LAMB2 were set to 19251977
Publications for gene: LAMB2 were set to 19251977; 27472506 (Review)
Publications for gene: LAMB2 were set to 19251977
Publications for gene LAMB2 were changed from 19251977; 27472506 (Review) to 19251977
Source NHS GMS was added to LAMB2.
Source Wessex and West Midlands GLH was added to LAMB2.
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
LAMB2 was added to Congenital myaestheniapanel. Sources: Literature
LAMB2 was created by rfoulger