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Proteinuric renal disease v6.24 LAMA5 Ida Ertmanska changed review comment from: PMID: 35419533 Taniguchi et al., 2021
Report of 4 Japanese patients: three patients from 2 families with LAMA5 gene biallelic truncating variants manifesting infantile nephrotic syndrome, and one patient with steroid-resistant nephrotic syndrome habrouring biallelic LAMA5 missense variants. Seq method: NGS sequencing of 62 podocyte-related genes in a large cohort with severe proteinuria. All 4 patients presented with proteinuria within 6 months of age.

PMID: 36714636 Sunwoo et al., 2023
Case report: patient with infantile steroid-resistant nephrotic syndrome and comp het LAMA5 variants: c.3434G > A, p.Cys1145Tyr and c.6883C > T, p.Gln2295*. Proband is a female who presented at 10-months-old with eyelid edema and massive proteinuria without any extrarenal symptoms or family history. Renal biopsy revealed focal segmental glomerulosclerosis with widely effaced epithelial foot processes and a "moth-eaten" appearance. She progressed to end stage kidney disease, requiring dialysis at 31 months of age, and underwent a deceased-donor kidney transplant at 6 years of age.

PMID: 37985485 Deepthi et al., 2024
Report of a two-and-a-half-month-old female infant who presented with generalized edema for 10 days. She was comp het for LAMA5 variants c.385C>A, p.Gln129Lys & c.3932_3936dup, p.Phe1313Profs*44 (confirmed in trans). She was diagnosed with Congenital Nephrotic Syndrome and died at 6 months of age. Kidney biopsy was consistent with diffuse mesangial sclerosis.

LAMA5 is associated with AR Nephrotic syndrome, type 26, MIM:620049 in OMIM (accessed 26th Oct 2026).; to: PMID: 35419533 Taniguchi et al., 2021
Report of 4 Japanese patients: three patients from 2 families with LAMA5 gene biallelic truncating variants manifesting infantile nephrotic syndrome, and one patient with steroid-resistant nephrotic syndrome habrouring biallelic LAMA5 missense variants. Seq method: NGS sequencing of 62 podocyte-related genes in a large cohort with severe proteinuria. All 4 patients presented with proteinuria within 6 months of age.

PMID: 36714636 Sunwoo et al., 2023
Case report: patient with infantile steroid-resistant nephrotic syndrome and comp het LAMA5 variants: c.3434G > A, p.Cys1145Tyr and c.6883C > T, p.Gln2295*. Proband is a female who presented at 10-months-old with eyelid edema and massive proteinuria without any extrarenal symptoms or family history. Renal biopsy revealed focal segmental glomerulosclerosis with widely effaced epithelial foot processes and a "moth-eaten" appearance. She progressed to end stage kidney disease, requiring dialysis at 31 months of age, and underwent a deceased-donor kidney transplant at 6 years of age.

PMID: 37985485 Deepthi et al., 2024
Report of a two-and-a-half-month-old female infant who presented with generalized edema for 10 days. She was comp het for LAMA5 variants c.385C>A, p.Gln129Lys & c.3932_3936dup, p.Phe1313Profs*44 (confirmed in trans). She was diagnosed with Congenital Nephrotic Syndrome and died at 6 months of age. Kidney biopsy was consistent with diffuse mesangial sclerosis.

LAMA5 association with AR LAMA5-related multisystemic syndrome has been classified as Definitive in ClinGen (Glomerulopathy GCEP, 2022). This gene is associated with AR ?Bent bone dysplasia syndrome 2, OMIM:620076 and AR Nephrotic syndrome, type 26, OMIM:620049. Resources accessed 26th Oct 2026.
Proteinuric renal disease v6.24 LAMA5 Ida Ertmanska changed review comment from: Comment on list classification: There are now more than 3 unrelated patients reported in literature with biallelic LAMA5 variants and renal disease (either steroid-resistant nephrotic syndrome or infantile nephrotic syndrome), including proteinuria. Hence, this gene can be promoted to Green at the next update.; to: Comment on list classification: There are now more than 3 unrelated patients reported in literature with biallelic LAMA5 variants and renal disease (either steroid-resistant nephrotic syndrome or infantile nephrotic syndrome), including severe early-onset proteinuria. Hence, this gene can be promoted to Green at the next update.
Proteinuric renal disease v6.24 LAMA5 Ida Ertmanska commented on gene: LAMA5: Comment on list classification: There are now more than 3 unrelated patients reported in literature with biallelic LAMA5 variants and renal disease (either steroid-resistant nephrotic syndrome or infantile nephrotic syndrome), including proteinuria. Hence, this gene can be promoted to Green at the next update.
Proteinuric renal disease v6.24 LAMA5 Ida Ertmanska Phenotypes for gene: LAMA5 were changed from Nephrotic syndrome to Nephrotic syndrome, type 26, OMIM:620049; familial nephrotic syndrome, MONDO:0002350
Proteinuric renal disease v6.23 LAMA5 Ida Ertmanska Publications for gene: LAMA5 were set to 29534211
Proteinuric renal disease v6.22 LAMA5 Ida Ertmanska Tag Q4_26_promote_green tag was added to gene: LAMA5.
Proteinuric renal disease v6.22 LAMA5 Ida Ertmanska edited their review of gene: LAMA5: Changed publications to: 35419533, 36714636, 37985485
Proteinuric renal disease v6.22 LAMA5 Ida Ertmanska changed review comment from: PMID: 36714636 Sunwoo et al., 2023
Case report: patient with infantile steroid-resistant nephrotic syndrome and comp het LAMA5 variants: c.3434G > A, p.Cys1145Tyr and c.6883C > T, p.Gln2295*. Proband is a female who presented at 10-months-old with eyelid edema and massive proteinuria without any extrarenal symptoms or family history. Renal biopsy revealed focal segmental glomerulosclerosis with widely effaced epithelial foot processes and a "moth-eaten" appearance. She progressed to end stage kidney disease, requiring dialysis at 31 months of age, and underwent a deceased-donor kidney transplant at 6 years of age.

PMID: 37985485 Deepthi et al., 2024
Report of a two-and-a-half-month-old female infant who presented with generalized edema for 10 days. She was comp het for LAMA5 variants c.385C>A, p.Gln129Lys & c.3932_3936dup, p.Phe1313Profs*44 (confirmed in trans). She was diagnosed with Congenital Nephrotic Syndrome and died at 6 months of age. Kidney biopsy was consistent with diffuse mesangial sclerosis.

LAMA5 is associated with AR Nephrotic syndrome, type 26, MIM:620049 in OMIM (accessed 26th Oct 2026).; to: PMID: 35419533 Taniguchi et al., 2021
Report of 4 Japanese patients: three patients from 2 families with LAMA5 gene biallelic truncating variants manifesting infantile nephrotic syndrome, and one patient with steroid-resistant nephrotic syndrome habrouring biallelic LAMA5 missense variants. Seq method: NGS sequencing of 62 podocyte-related genes in a large cohort with severe proteinuria. All 4 patients presented with proteinuria within 6 months of age.

PMID: 36714636 Sunwoo et al., 2023
Case report: patient with infantile steroid-resistant nephrotic syndrome and comp het LAMA5 variants: c.3434G > A, p.Cys1145Tyr and c.6883C > T, p.Gln2295*. Proband is a female who presented at 10-months-old with eyelid edema and massive proteinuria without any extrarenal symptoms or family history. Renal biopsy revealed focal segmental glomerulosclerosis with widely effaced epithelial foot processes and a "moth-eaten" appearance. She progressed to end stage kidney disease, requiring dialysis at 31 months of age, and underwent a deceased-donor kidney transplant at 6 years of age.

PMID: 37985485 Deepthi et al., 2024
Report of a two-and-a-half-month-old female infant who presented with generalized edema for 10 days. She was comp het for LAMA5 variants c.385C>A, p.Gln129Lys & c.3932_3936dup, p.Phe1313Profs*44 (confirmed in trans). She was diagnosed with Congenital Nephrotic Syndrome and died at 6 months of age. Kidney biopsy was consistent with diffuse mesangial sclerosis.

LAMA5 is associated with AR Nephrotic syndrome, type 26, MIM:620049 in OMIM (accessed 26th Oct 2026).
Proteinuric renal disease v6.22 LAMA5 Ida Ertmanska reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36714636, 37985485; Phenotypes: Nephrotic syndrome, type 26, OMIM:620049, familial nephrotic syndrome, MONDO:0002350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.225 LAMA5 Eleanor Williams Phenotypes for gene: LAMA5 were changed from to Nephrotic syndrome
Proteinuric renal disease v1.224 LAMA5 Eleanor Williams Mode of inheritance for gene: LAMA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.223 LAMA5 Eleanor Williams Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuric renal disease v1.223 LAMA5 Eleanor Williams Added comment: Comment on list classification: Changing the rating of this gene to Amber. 3 cases with homozygous missense variants reported but authors classify as VUS as there is no experimental evidence to link the impact of these genetic variants on protein function to disease pathogenesis.
Proteinuric renal disease v1.223 LAMA5 Eleanor Williams Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v1.221 LAMA5 Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.; to: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. There is evolutionary conservation at these sites. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.
Proteinuric renal disease v1.221 LAMA5 Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.; to: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.
Proteinuric renal disease v1.221 LAMA5 Eleanor Williams commented on gene: LAMA5: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.
Proteinuric renal disease v1.221 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29534211; Phenotypes: Nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.201 LAMA5 Eleanor Williams Publications for gene: LAMA5 were set to
Proteinuric renal disease v1.16 LAMA5 Eleanor Williams reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 29534211; Phenotypes: No OMIM disease association; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.15 LAMA5 Eleanor Williams gene: LAMA5 was added
gene: LAMA5 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: LAMA5 was set to