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Proteinuric renal disease v6.18 PTPRO Luke Stuart changed review comment from: PTPRO is associated with Nephrotic syndrome, type 6 #614196 (AR) in OMIM (accessed 08/2026)

Thakor et al., 2021 (PMID 34546508) screened seven podocyte/nephrotic-syndrome-associated genes (TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2) in 90 Indian patients with steroid-sensitive (SSNS) and steroid-resistant (SRNS) nephrotic syndrome. They identified two likely pathogenic PTPRO variants (c.1778T>C p.(Val593Ala) and c.*16A>G) in SNSS patients. Methodology states classification was via ACMG standards, though the assertion criteria are not provided, and no clinvar nor LOVD record for either variant could be found. Supplemental table 2 suggests both variants were found in the heterozygous state, at odds with the proposed autosomal recessive inheritance mechanism in the primary case report by Ozaltin et al., 2011 (PMID 21722858).

Wharram et al., 2000 (PMID 11086029): Ptpro-/- mice show altered podocyte structure- foot processes are shorter, broader and distribution of the cytoskeletal protein vimentin is altered, confirmed by scanning and transmission electron microscopy. These structural changes were accompanied by reduced glomerular nephrin content and a measurable reduction in glomerular filtration rate, along with a predisposition to hypertension after nephrectomy. Notably, baseline Ptpro-/- mice did not show increased albuminuria under normal conditions, indicating GLEPP1 (encoded by Ptpro) loss alone produces subclinical structural podocyte anomalies and a filtration/pressure regulation defect rather than overt proteinuria in mice.; to: PTPRO is associated with Nephrotic syndrome, type 6 #614196 (AR) in OMIM (accessed 08/2026)

Thakor et al., 2021 (PMID 34546508) screened seven podocyte/nephrotic-syndrome-associated genes (TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2) in 90 Indian patients with steroid-sensitive (SSNS) and steroid-resistant (SRNS) nephrotic syndrome. They identified two likely pathogenic PTPRO variants (c.1778T>C p.(Val593Ala) and c.*16A>G) in SNSS patients. Methodology states classification was via ACMG standards, though the assertion criteria are not provided, and no clinvar nor LOVD record for either variant could be found. Supplemental table 2 suggests both variants were found in the heterozygous state, at odds with the proposed autosomal recessive inheritance mechanism in the primary case report by Ozaltin et al., 2011 (PMID 21722858).

Wharram et al., 2000 (PMID 11086029): Ptpro-/- mice show altered podocyte structure, consistent with human disease subjects- foot processes are shorter, broader and distribution of the cytoskeletal protein vimentin is altered, confirmed by electron microscopy. These structural changes were accompanied by reduced glomerular nephrin content and a measurable reduction in glomerular filtration rate, along with a predisposition to hypertension after nephrectomy. Notably, baseline Ptpro-/- mice did not show increased albuminuria under normal conditions, indicating GLEPP1 (encoded by Ptpro) loss alone produces subclinical structural podocyte anomalies and might reduce renal functional reserve.

An amber rating with watchlist designation is appropriate, given 2 unrelated families with segregation, plus an animal model partially recapitulating the phenotype seen in humans disease subjects.
Proteinuric renal disease v6.16 PTPRO Luke Stuart changed review comment from: PTPRO is associated with Nephrotic syndrome, type 6 #614196 (AR) in OMIM (accessed 08/2026)

Thakor et al., 2021 (PMID 34546508) screened seven podocyte/nephrotic-syndrome-associated genes (TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2) in 90 Indian patients with steroid-sensitive (SSNS) and steroid-resistant (SRNS) nephrotic syndrome. They identified two likely pathogenic PTPRO variants (c.1778T>C p.(Val593Ala) and c.*16A>G) in SNSS patients. Methodology states classification was via ACMG standards, though the assertion criteria are not provided, and no clinvar nor LOVD record for either variant could be found. Supplemental table 2 suggests both variants were found in the heterozygous state, at odds with the proposed autosomal recessive inheritance mechanism in the primary case report by Ozaltin et al., 2011 (PMID 21722858).

Ptpro-/- mice show altered podocyte structure- foot processes are shorter, broader and distribution of the cytoskeletal protein vimentin is altered, confirmed by scanning and transmission electron microscopy. These structural changes were accompanied by reduced glomerular nephrin content and a measurable reduction in glomerular filtration rate, along with a predisposition to hypertension after nephrectomy. Notably, baseline Ptpro-/- mice did not show increased albuminuria under normal conditions, indicating GLEPP1 (encoded by Ptpro) loss alone produces subclinical structural podocyte anomalies and a filtration/pressure regulation defect rather than overt proteinuria in mice.; to: PTPRO is associated with Nephrotic syndrome, type 6 #614196 (AR) in OMIM (accessed 08/2026)

Thakor et al., 2021 (PMID 34546508) screened seven podocyte/nephrotic-syndrome-associated genes (TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2) in 90 Indian patients with steroid-sensitive (SSNS) and steroid-resistant (SRNS) nephrotic syndrome. They identified two likely pathogenic PTPRO variants (c.1778T>C p.(Val593Ala) and c.*16A>G) in SNSS patients. Methodology states classification was via ACMG standards, though the assertion criteria are not provided, and no clinvar nor LOVD record for either variant could be found. Supplemental table 2 suggests both variants were found in the heterozygous state, at odds with the proposed autosomal recessive inheritance mechanism in the primary case report by Ozaltin et al., 2011 (PMID 21722858).

Wharram et al., 2000 (PMID 11086029): Ptpro-/- mice show altered podocyte structure- foot processes are shorter, broader and distribution of the cytoskeletal protein vimentin is altered, confirmed by scanning and transmission electron microscopy. These structural changes were accompanied by reduced glomerular nephrin content and a measurable reduction in glomerular filtration rate, along with a predisposition to hypertension after nephrectomy. Notably, baseline Ptpro-/- mice did not show increased albuminuria under normal conditions, indicating GLEPP1 (encoded by Ptpro) loss alone produces subclinical structural podocyte anomalies and a filtration/pressure regulation defect rather than overt proteinuria in mice.
Proteinuric renal disease v6.16 PTPRO Luke Stuart changed review comment from: PTPRO is associated with Nephrotic syndrome, type 6 #614196 (AR) in OMIM (accessed 08/2026)

Thakor et al., 2021 (PMID 34546508) screened seven podocyte/nephrotic-syndrome-associated genes (TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2) in 90 Indian patients with steroid-sensitive (SSNS) and steroid-resistant (SRNS) nephrotic syndrome. They identified two likely pathogenic PTPRO variants (c.1778T>C p.(Val593Ala) and c.*16A>G) in SNSS patients. Methodology states classification was via ACMG standards, though the assertion criteria are not provided, and no clinvar nor LOVD record for either variant could be found. Supplemental table 2 suggests both variants were found in the heterozygous state, at odds with the proposed autosomal recessive inheritance mechanism in the primary case report by Ozaltin et al., 2011 (PMID 21722858).; to: PTPRO is associated with Nephrotic syndrome, type 6 #614196 (AR) in OMIM (accessed 08/2026)

Thakor et al., 2021 (PMID 34546508) screened seven podocyte/nephrotic-syndrome-associated genes (TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2) in 90 Indian patients with steroid-sensitive (SSNS) and steroid-resistant (SRNS) nephrotic syndrome. They identified two likely pathogenic PTPRO variants (c.1778T>C p.(Val593Ala) and c.*16A>G) in SNSS patients. Methodology states classification was via ACMG standards, though the assertion criteria are not provided, and no clinvar nor LOVD record for either variant could be found. Supplemental table 2 suggests both variants were found in the heterozygous state, at odds with the proposed autosomal recessive inheritance mechanism in the primary case report by Ozaltin et al., 2011 (PMID 21722858).

Ptpro-/- mice show altered podocyte structure- foot processes are shorter, broader and distribution of the cytoskeletal protein vimentin is altered, confirmed by scanning and transmission electron microscopy. These structural changes were accompanied by reduced glomerular nephrin content and a measurable reduction in glomerular filtration rate, along with a predisposition to hypertension after nephrectomy. Notably, baseline Ptpro-/- mice did not show increased albuminuria under normal conditions, indicating GLEPP1 (encoded by Ptpro) loss alone produces subclinical structural podocyte anomalies and a filtration/pressure regulation defect rather than overt proteinuria in mice.
Proteinuric renal disease v1.166 PMM2 Eleanor Williams Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia #212065
Proteinuric renal disease v1.165 PMM2 Eleanor Williams Publications for gene: PMM2 were set to
Proteinuric renal disease v1.16 PMM2 Eleanor Williams reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 19474279, PMID: 29229467 ; Phenotypes: Congenital disorder of glycosylation, type Ia #212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.15 PMM2 Eleanor Williams Source NHS GMS was added to PMM2.