Congenital myaesthenic syndrome

Gene: LAMB2

Red List (low evidence)

LAMB2 (laminin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 7 panels

3 reviews

Louise Daugherty (Genomics England Curator)

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.

Michael Oldridge (NHS)

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

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Congenital myasthenic syndrome
  • congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
  • synaptic congenital myasthenic syndrome
OMIM
150325
Clinvar variants
Variants in LAMB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: LAMB2 were set to 19251977

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: LAMB2 were set to 19251977; 27472506 (Review)

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: LAMB2 were set to 19251977

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene LAMB2 were changed from 19251977; 27472506 (Review) to 19251977

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LAMB2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to LAMB2.

22 Feb 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

6 Feb 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

LAMB2 was added to Congenital myaestheniapanel. Sources: Literature

6 Feb 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

LAMB2 was created by rfoulger