Activity
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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. |
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| 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. |
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| 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. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; not likely to be disease causing. c.1120A>G, (p.Thr374Ala) - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; not likely to be disease causing. c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 25501161 Feng et al., 2014 Patient 2- presented nephrotic syndrome at 8yo - steroid resistant. Renal biopsy showed MCNS; heterozygous for a CD2AP mutation, IVS7-135G>A (intron 7). Patient 25 - FSGS onset at 4.5yrs - steroid resistant; went into remission after receiving cyclosporin A. Het for IVS13-137G>A (intron 13). Method: sequenced NPHS1, NPHS2, CD2AP, and WT1 only. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. ; to: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. PCR sequencing of CD2AP only. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; not likely to be disease causing. c.1120A>G, (p.Thr374Ala) - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; not likely to be disease causing. c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 25501161 Feng et al., 2014 Patient 2- presented nephrotic syndrome at 8yo - steroid resistant. Renal biopsy showed MCNS; heterozygous for a CD2AP mutation, IVS7-135G>A (intron 7). Patient 25 - FSGS onset at 4.5yrs - steroid resistant; went into remission after receiving cyclosporin A. Het for IVS13-137G>A (intron 13). Method: sequenced NPHS1, NPHS2, CD2AP, and WT1 only. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; c.1120A>G, (p.Thr374Ala) - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 25501161 Feng et al., 2014 Patient 2- presented nephrotic syndrome at 8yo - steroid resistant. Renal biopsy showed MCNS; heterozygous for a CD2AP mutation, IVS7-135G>A (intron 7). Patient 25 - FSGS onset at 4.5yrs - steroid resistant; went into remission after receiving cyclosporin A. Het for IVS13-137G>A (intron 13). Method: sequenced NPHS1, NPHS2, CD2AP, and WT1 only. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. ; to: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; not likely to be disease causing. c.1120A>G, (p.Thr374Ala) - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; not likely to be disease causing. c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 25501161 Feng et al., 2014 Patient 2- presented nephrotic syndrome at 8yo - steroid resistant. Renal biopsy showed MCNS; heterozygous for a CD2AP mutation, IVS7-135G>A (intron 7). Patient 25 - FSGS onset at 4.5yrs - steroid resistant; went into remission after receiving cyclosporin A. Het for IVS13-137G>A (intron 13). Method: sequenced NPHS1, NPHS2, CD2AP, and WT1 only. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; c.1120A>G, p.Thr374Ala - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. ; to: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; c.1120A>G, (p.Thr374Ala) - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 25501161 Feng et al., 2014 Patient 2- presented nephrotic syndrome at 8yo - steroid resistant. Renal biopsy showed MCNS; heterozygous for a CD2AP mutation, IVS7-135G>A (intron 7). Patient 25 - FSGS onset at 4.5yrs - steroid resistant; went into remission after receiving cyclosporin A. Het for IVS13-137G>A (intron 13). Method: sequenced NPHS1, NPHS2, CD2AP, and WT1 only. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; c.1120A>G, p.Thr374Ala - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. ; to: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; c.1120A>G, p.Thr374Ala - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: In addition, two heterozygous variants (c.730-1_730delinsCT and c.1734dup, (p.Lys579GlufsTer7)) have been reported in 2 unrelated probands (PMIDs: 12764198, 34408996). PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; c.1120A>G, p.Thr374Ala - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. ; to: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: PMID: 12764198 Kim et al 2003 Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. Variant c.730-1_730delinsCT was found in 2 patients with primary FSGS; CD2AP protein levels were lower in these patients. Variant not present in gnomAD v4. CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; c.1120A>G, p.Thr374Ala - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes; c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. PMID: 34408996 Liu et al., 2021 Chinese family of four generations with unexplained proteinuria. The proband IV-1, a 12-year-old boy, had steroid resistant high proteinuria (2+). He was reported as heterozygous for c.1734_1735insG, p.Lys579Glufs*7 in CD2AP - AF in gnomAD v4: 6.198e-7. Seq method: WES. Variant shown to segregate with disease in this family. 10 other possibly pathogenic variants detected but not associated with kidney disease. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. In addition, two heterozygous variants (c.730-1_730delinsCT and c.1734dup, (p.Lys579GlufsTer7)) have been reported in 2 unrelated probands (PMIDs: 12764198, 34408996). More evidence is required to support the autosomal dominant mode of inheritance. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. ; to: Biallelic cases: Two articles reviewed previously by Eleanor Williams report 2 unrelated cases with homozygous nonsense variants in CD2AP and Focal segmental glomerulosclerosis (PMID:17713465 - Löwik et al 2007 & PMID: 30612599 - Takano et al 2019). Extra case reports: PMID: 30348286 Gribouval O, et al., 2018, Male individual homozygous for NM_012120.3 (CD2AP):c.634C>T (p.Arg212Ter) Focal segmental glomerulosclerosis - age of onset 24yo; eGFR at onset: 12 Albuminemia g/l: 28 Proteinuria g/g: 3.6; End stage renal disease at 25yo. Method: NGS panel of 35 genes. PMID: 36964972 Gorukmez O, et al., 2023 23 year old male with a homozygous variant in CD2AP who presented with nephropathy. Variant: NM_012120.3 (CD2AP):c.1742del (p.Asn581IlefsTer17). Method: clinical WES. Monoallelic cases: In addition, two heterozygous variants (c.730-1_730delinsCT and c.1734dup, (p.Lys579GlufsTer7)) have been reported in 2 unrelated probands (PMIDs: 12764198, 34408996). PMID: 19131354 Gigante et al., 2009 3 unrelated Italian patients with idiopathic nephrotic syndrome, heterozygous for one mutation each: c.902A>T, (p.Lys301Met) - total AF in gnomAD v.4 = 0.0001904 including 5 homozygotes; c.1120A>G, p.Thr374Ala - total AF in gnomAD v.4 = 0.005488 including 48 homozygotes c.1569AGA[2] (p.Glu525del) - total AF in gnomD v.4 = 0.0003639, no homozygotes reported. PMID: 26997877 Tsvetkov et al., 2016 Male patient, German ancestry, presented with a nephrotic syndrome (proteinuria >3.5 g/day) at 28yo; kidney biopsy confirmed FSGS diagnosis; heterozygous for c.1120A>G, p.(Thr374Ala) in CD2AP - variant too common in population to cause disease. Mother and brother also have kidney disease, not genotyped. Seq method: sequencing of exons only of the following genes: TRPC6, ACTN4, WT1, CD2AP, and INF2. CD2AP is classified Definitive for AR 'focal segmental glomerulosclerosis 3, susceptibility to', and Moderate for AD 'inherited focal segmental glomerulosclerosis' in ClinGen (curated by the Glomerulopathy Gene Curation Expert Panel in 2024). This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. |
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| Proteinuric renal disease v1.125 | TRPC6 | Eleanor Williams Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2 #603652; Proteinuria; FSGS; kidney failure; Familial and sporadic SRNS (adult) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.124 | TRPC6 | Eleanor Williams Publications for gene: TRPC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.16 | TRPC6 | Eleanor Williams reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glomerulosclerosis, focal segmental, 2 #603652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | TRPC6 |
Eleanor Williams Source NHS GMS was added to TRPC6. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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