1. Panels
  2. Renal and urinary tract disorders
  3. LAMB2
STRs in panel
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Renal and urinary tract disorders

Gene: LAMB2

Green List (high evidence)
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: Imported from End-stage renal disease - childhood onset panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
  • Pierson syndrome 609049
OMIM
150325
Clinvar variants
Variants in LAMB2
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LAMB2 was added gene: LAMB2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB2 were set to Nephrotic syndrome, type 5, with or without ocular abnormalities