Activity
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| Proteinuric renal disease v5.6 | CD2AP | Eleanor Williams Tag Q3_25_expert_review was removed from gene: CD2AP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v5.6 | CD2AP | Eleanor Williams Tag Q3_25_expert_review tag was added to gene: CD2AP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v5.6 | CD2AP |
Ida Ertmanska Mode of inheritance for gene CD2AP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CD2AP were updated from 10514378; 12764198; 17713465; 30348286; 30612599; 34408996; 36964972 to 10514378; 12764198; 17713465; 19131354; 25501161; 26997877; 30348286; 30612599; 34408996; 36964972 |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least 4 unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). Several reported heterozygous variants have high allele frequencies in the general population and their pathogenicity is disputed (PMIDs:19131354; 26997877) . However, there are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP that are sufficiently rare (12764198; 19131354; 34408996). This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. ; to: Comment on list classification: There are at least 4 unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). Several reported heterozygous variants have high allele frequencies in the general population, including in homozygosity, and their pathogenicity is disputed (PMIDs:19131354; 26997877) . However, there are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP that are sufficiently rare (12764198; 19131354; 34408996). This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least 4 unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). Several reported heterozygous variants have high allele frequencies in the general population and their pathogenicity is disputed. However, there are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP that are sufficiently rare. This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. ; to: Comment on list classification: There are at least 4 unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). Several reported heterozygous variants have high allele frequencies in the general population and their pathogenicity is disputed (PMIDs:19131354; 26997877) . However, there are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP that are sufficiently rare (12764198; 19131354; 34408996). This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least 4 unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). There are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP. Several other reported heterozygous variants have high allele frequencies in the general population and their pathogenicity is disputed. This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. ; to: Comment on list classification: There are at least 4 unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). Several reported heterozygous variants have high allele frequencies in the general population and their pathogenicity is disputed. However, there are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP that are sufficiently rare. This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). There are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP. Several other reported heterozygous variants have high allele frequencies in the general population and their pathogenicity is disputed. This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. ; to: Comment on list classification: There are at least 4 unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). There are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP. Several other reported heterozygous variants have high allele frequencies in the general population and their pathogenicity is disputed. This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. |
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| Proteinuric renal disease v5.5 | CD2AP |
Ida Ertmanska changed review comment from: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). There are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP. This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease.; to: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). There are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP. Several other reported heterozygous variants have high allele frequencies in the general population and their pathogenicity is disputed. This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. |
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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: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). There are at least This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease.; to: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). There are at least 3 unrelated individuals reported with FSGS and heterozygous variants in CD2AP. This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease.; to: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). There are at least This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v5.5 | CD2AP | Ida Ertmanska edited their review of gene: CD2AP: Changed publications to: 10514378, 12764198, 17713465, 19131354, 25501161, 26997877, 30348286, 30612599, 34408996, 36964972; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v5.5 | CD2AP |
Eleanor Williams changed review comment from: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: 12764198 - Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; to: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: 12764198 - Kim et al 2003 - CD2AP+/- mice showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed). |
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| Proteinuric renal disease v5.5 | CD2AP | Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 21st October 2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v5.5 | CD2AP | Eleanor Williams Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM:607832; focal segmental glomerulosclerosis 3, susceptibility to, MONDO:0011917 to Glomerulosclerosis, focal segmental, 3, OMIM:607832; focal segmental glomerulosclerosis 3, susceptibility to, MONDO:0011917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v5.4 | CD2AP |
Ida Ertmanska Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3 #607832 to Glomerulosclerosis, focal segmental, 3, OMIM:607832; focal segmental glomerulosclerosis 3, susceptibility to, MONDO:0011917 Publications for gene: CD2AP were updated from 12764198; 17713465; 30348286; 30612599; 34408996; 36964972 to 10514378; 12764198; 17713465; 30348286; 30612599; 34408996; 36964972 |
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| Proteinuric renal disease v5.3 | CD2AP | Ida Ertmanska edited their review of gene: CD2AP: Changed publications to: 10514378, 12764198, 17713465, 30348286, 30612599, 34408996, 36964972 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v5.3 | CD2AP | Ida Ertmanska changed review comment from: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). This gene-disease relationship is also supported by functional studies in mice. Based on the available evidence, this gene should be rated Green for Proteinuric renal disease.; to: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). This gene-disease relationship is also supported by functional studies in mice (PMIDs: 10514378; 30612599). Based on the available evidence, this gene should be rated Green for Proteinuric renal disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v5.3 | CD2AP |
Ida Ertmanska Publications for gene: CD2AP were updated from 30612599; 17713465 to 12764198; 17713465; 30348286; 30612599; 34408996; 36964972 Tag Q3_25_promote_green tag was added to CD2AP. |
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| Proteinuric renal disease v5.2 | 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 variants (c.730-1_730delinsCT and c.1734dup, (p.Lys579GlufsTer7)) have been reported in 2 unrelated probands (PMIDs: 12764198, 34408996). 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: 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. |
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| Proteinuric renal disease v5.2 | CD2AP | Ida Ertmanska commented on gene: CD2AP: Comment on list classification: There are at least four unrelated cases reported with homozygous variants in CD2AP and Focal segmental glomerulosclerosis / nephropathy (PMIDs: 17713465, 30348286, 30612599, 36964972). This gene-disease relationship is also supported by functional studies in mice. Based on the available evidence, this gene should be rated Green for Proteinuric renal disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v5.2 | 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 ESRD 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, there are two individuals with 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: 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 variants (c.730-1_730delinsCT and c.1734dup, (p.Lys579GlufsTer7)) have been reported in 2 unrelated probands (PMIDs: 12764198, 34408996). 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 v5.2 | CD2AP |
Ida Ertmanska changed review comment from: 2 probands with inherited AD FSGS: PMIDs: 12764198, 34408996, 4 probands with AR mode:PMIDs: 17713465, 30348286, 30612599, 36964972, also some case-control data. This gene is associated with Glomerulosclerosis, focal segmental, 3, 607832 in OMIM (accessed 20th Oct 2025) - no mode of inheritance listed. 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).; to: 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 ESRD 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, there are two individuals with 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 v5.2 | CD2AP | Ida Ertmanska reviewed gene: CD2AP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12764198, 17713465, 30348286, 30612599, 34408996, 36964972; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM:607832, focal segmental glomerulosclerosis 3, susceptibility to, MONDO:0011917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.8 | CD2AP | Catherine Snow Mode of inheritance for gene: CD2AP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.7 | CD2AP | Catherine Snow Classified gene: CD2AP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.7 | CD2AP | Catherine Snow Gene: cd2ap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | CD2AP |
Eleanor Williams changed review comment from: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: 12764198 - Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; to: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: 12764198 - Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed). |
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| Proteinuric renal disease v2.0 | CD2AP | Eleanor Williams edited their review of gene: CD2AP: Changed publications: 30612599, 17713465, 10514378, 12764198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | CD2AP |
Eleanor Williams changed review comment from: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; to: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: 12764198 - Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed). |
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| Proteinuric renal disease v2.0 | CD2AP |
Eleanor Williams changed review comment from: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal effect. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIVE-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; to: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal involvement. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIV-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed). |
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| Proteinuric renal disease v2.0 | CD2AP |
Eleanor Williams edited their review of gene: CD2AP: Added comment: Associated with Glomerulosclerosis, focal segmental, 3 #607832 in OMIM (no inheritance given) Mouse knockout model supports renal effect. 2 cases with heterozgous variants and FSGS but only CD2AP looked at. Two familial cases of homozygous variants (in one only CD2AP screened) and FSGS. PMID: 10514378 - Shih et al 1999 - In CD2AP-deficient mice, immune function was compromised, but the mice died at 6 to 7 weeks of age from renal failure. In the kidney, CD2AP was expressed primarily in glomerular epithelial cells. PMID: Kim et al 2003 - CD2AP+/- showed glomerular abnormalities at 9 months of age but not proteinuria. Screened 30 African-Americans with idiopathic FSGS and 15 African-Americans with HIVE-associated FSGS for changes in CD2AP. One variant, predicted to affect the splice acceptor of exon 7 in one allele, was found in 2 patients with primary FSGS and expression of the protein was lower in these patients. PMID:17713465 - Löwik et al 2007 - report a homozygous variant in a proband with primary Focal segmental glomerulosclerosis, from a consanguineous family of Mediterranean ancestry. A homozygous c1834 C>T (R612Stop) variant was found. Both parents were proven to be heterozygous for this mutation. An immunoblot shows no CD2AP expression in the patient carrying the R612Stop mutation homozygously PMID: 30612599 - Takano et al 2019 - Using WES, they identified a homozygous frame-shift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset FSGS and end stage renal disease. When the same frameshift mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. (Abstract only accessed).; Changed publications: PMID: 30612599, PMID: 17713465 |
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| Proteinuric renal disease v2.0 | CD2AP | chirag patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | CD2AP | chirag patel reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | CD2AP | Zornitza Stark reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: 17713465, 30612599; Phenotypes: Glomerulosclerosis, focal segmental, 3 #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.142 | CD2AP | Eleanor Williams Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3 #607832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.141 | CD2AP | Eleanor Williams Publications for gene: CD2AP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.16 | CD2AP | Eleanor Williams reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 30612599, PMID: 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3 #607832; Mode of inheritance: Unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | CD2AP | Eleanor Williams Source NHS GMS was added to CD2AP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||