Congenital myaesthenic syndrome

Gene: LAMB2

Red List (low evidence)

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.

I don't know

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

• 19251977

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.