Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: LAMA5

Green List (high evidence)

LAMA5 (laminin subunit alpha 5)
EnsemblGeneIds (GRCh38): ENSG00000130702
EnsemblGeneIds (GRCh37): ENSG00000130702
OMIM: 601033, Gene2Phenotype
LAMA5 is in 5 panels

3 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

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, 3:54 a.m. | Last Modified: 6 Oct 2022, 3:54 a.m.
Panel Version: 1.366

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 26 620049

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 3:44 a.m. | Last Modified: 6 Oct 2022, 3:44 a.m.
Panel Version: 1.363

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 26 620049; Bent bone dysplasia syndrome 2, MIM# 620076

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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 v2.1
PMID: 28735299, 30589377 - A single large multigenerational family with a multisystem syndrome (including ophthalmic fetures), segregating a heterozygous missense p.V3140M, and supporting knock-in mouse model that recapitulates the phenotype.
PMID: 33242826 - A single family with a bent bone dysplasia in 3 affected siblings with biallelic variants, and some supporting in vitro functional assays.
PMID: 28544784, 29377152 - Single family with congenital myasthenic syndrome with a homozygous missense reported twice.
PMID: 30631761 - a single case with a de novo splice site variant with developmental delay, epilepsy, and hypotonia
Created: 15 Jun 2021, 3:08 a.m. | Last Modified: 15 Jun 2021, 3:08 a.m.
Panel Version: 0.7990

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bent bone dysplasia syndrome 2, MIM# 620076
  • nephrotic syndrome
  • Presynaptic congenital myasthenic syndrome
  • multisystem syndrome
  • developmental delay
OMIM
601033
Clinvar variants
Variants in LAMA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA5 were changed from bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay to Bent bone dysplasia syndrome 2, MIM# 620076; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama5 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: LAMA5 were changed from to bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay

15 Jun 2021, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: LAMA5 were set to

15 Jun 2021, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: LAMA5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama5 has been classified as Amber List (Moderate Evidence).

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama5 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMA5 was set to Unknown