Proteinuric renal disease
Gene: LAMB2
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: LAMB2; Suggested initial gene rating: green; Evidence for inclusion: none provided; Other comments: Many relevant publications in pubmed. Reported multiple times in SRNS gene panel cohortCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 5, with or without ocular abnormalities #614199; Pierson syndrome #609049
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Multiple families and current diagnostic.Created: 27 May 2016, 12:23 p.m.
3 positive cases UK renal panel testCreated: 19 Oct 2015, 2:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pierson syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: LAMB2 were set to
Phenotypes for gene: LAMB2 were changed from to Nephrotic syndrome, type 5, with or without ocular abnormalities #614199; Pierson syndrome #609049
Source NHS GMS was added to LAMB2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for LAMB2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
LAMB2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
LAMB2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing