Proteinuria
Gene: LAMA5EnsemblGeneIds (GRCh38): ENSG00000130702
EnsemblGeneIds (GRCh37): ENSG00000130702
OMIM: 601033, Gene2Phenotype
LAMA5 is in 5 panels
5 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 26 620049
Belinda Chong (Victorian Clinical Genetics Services)
PMID 35419533 - Three patients from two families with CHET nonsense and splice variants (Pathogenic - ClinVar). In vitro heterotrimer formation assays, showed both truncating variants produced smaller laminin alpha 5 proteins that nevertheless formed trimers with laminin beta1 and gamma1 chains.
One patient shows steroid-resistant nephrotic syndrome (SRNS) at age of 8 years and carried CHET missense variants.Created: 6 Oct 2022, 3:28 a.m. | Last Modified: 6 Oct 2022, 3:28 a.m.
Panel Version: 0.210
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome; Alport syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Bryony Thompson (Royal Melbourne Hospital)
PMID: 29534211 - Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants.
PMID: 16790509 - A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age.
PMID: 24130771 - a single case focal segmental glomerulosclerosis (proteinuria) with biallelic missense variants (VUS - S1469A & V2440I). Also reports p.Gly3685Arg in 2 other cases, which has 11 homozygotes in gnomAD v2.1
PMID: 29764427, 30808327 - Four families with haematuria and proteinuria reported with digenic inheritance of a LAMA5 missense variant with a COL4A4/5 variant. One of those variants (p.His1717Tyr) has 892 homozygotes in gnomAD v2.1Created: 15 Jun 2021, 1:50 a.m. | Last Modified: 15 Jun 2021, 3:07 a.m.
Panel Version: 0.167
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome; Alport syndrome
Publications
Chirag Patel (Genetic Health Queensland)
Three families published, though note the authors refer to the variants as VOUS.Created: 9 Jan 2020, 3:44 a.m. | Last Modified: 9 Jan 2020, 3:44 a.m.
Panel Version: 0.79
Belinda Chong (Victorian Clinical Genetics Services)
3 unrelated families; mouse model.Created: 13 Dec 2019, 4:39 a.m. | Last Modified: 13 Dec 2019, 4:39 a.m.
Panel Version: 0.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Nephrotic syndrome, type 26 620049
- OMIM
- 601033
- Clinvar variants
- Variants in LAMA5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LAMA5 were changed from Nephrotic syndrome to Nephrotic syndrome, type 26 620049
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lama5 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LAMA5 were set to 29534211
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lama5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lama5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lama5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lama5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lama5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lama5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LAMA5 were changed from to Nephrotic syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LAMA5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LAMA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LAMA5 was added gene: LAMA5 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMA5 was set to Unknown