Unexplained kidney failure in young people
Gene: LAMB2

LAMB2 (laminin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least five variants reported in Pierson syndrome 609049 and at least six for Nephrotic syndrome, type 5, with or without ocular abnormalities 614199;
Created: 4 Aug 2016, 2:08 p.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:13 a.m.

Created: 17 Jun 2016, 8:42 a.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN
Illumina TruGenome Clinical Sequencing Services
Eligibility statement prior genetic testing

Phenotypes

Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
Pierson syndrome 609049

OMIM

150325

Clinvar variants

Variants in LAMB2

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: LAMB2 were changed from Nephrotic syndrome, type 5, with or without ocular abnormalities 614199; Pierson syndrome 609049 to Nephrotic syndrome, type 5, with or without ocular abnormalities 614199; Pierson syndrome 609049

17 Aug 2016, Gel status: 4