Congenital Myasthenia

Gene: LAMB2

Red List (low evidence)

LAMB2 (laminin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Pierson syndrome, MIM# 609049
  • congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
OMIM
150325
Clinvar variants
Variants in LAMB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb2 has been classified as Red List (Low Evidence).

12 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMB2 were set to

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb2 has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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