Proteinuric renal disease
Gene: LAMB2EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 8 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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
Daniel Gale (UCL)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Multiple families and current diagnostic.Created: 27 May 2016, 12:23 p.m.
Maggie Williams (North Bristol NHS Trust)
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
- Hum Mutat. 2010 September
- 31(9): 992–1002
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
- Publications
- Panels with this gene
History Filter Activity
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: LAMB2 were set to
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: LAMB2 were changed from to Nephrotic syndrome, type 5, with or without ocular abnormalities #614199; Pierson syndrome #609049
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to LAMB2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for LAMB2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LAMB2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)LAMB2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing