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| Tubulointerstitial kidney disease v3.14 | APOA4 | Ida Ertmanska Publications for gene: APOA4 were set to 21900878; 27262366; 33751222; 38096951; 39699959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.13 | APOA4 |
Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: APOA4. Tag Q4_25_NHS_review tag was added to gene: APOA4. |
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| Tubulointerstitial kidney disease v3.13 | APOA4 |
Ida Ertmanska changed review comment from: PMID: 38096951 Kmochova et al., 2024 3 distantly related families with (NM_000482.4):c.196C>G, p.Leu66Val, 2 distantly related families with c.97G>A, p.Asp33Asn. Method: WGS. Affected individuals presented with chronic kidney disease, with mean age of kidney failure of 64.5 years. Kidney biopsies from affected individuals showed amyloid deposits in the medulla, with Apoa4 protein being the main constituent. p.Leu66Val - 3 heterozygotes in gnomAD v4.1.0 (European), Revel score = 0.27 p.Asp33Asn - not in gnomAD v4, though p.Asp33Glu and p.Asp33Val have been reported; Revel score = 0.31 PMID: 33751222 Murakami et al., 2021 Report of a 68 yo Japanese man, with 4 variants in APOA4: 2 synonymous (p.Thr29Thr, p.Leu128Leu); '6981A>C',p.Asn248Thr; and c.743A>C, p.Asn248Thr - not in gnomAD v4. Only APOA4 was sequenced. Patient had history of renal cysts, diagnosed with HCM 2 years prior. Authors highlight that Apoa4 protein aggregation is causal, but the gene variant may not be. PMID: 27262366 Dasari et al. 2016 Reported 11 patients with Apolipoprotein A-IV associated amyloidosis (mean age at diagnosis 63.5yrs). Biopsies showed large amounts of eosinophilic Congo–red positive amyloid deposits restricted to the renal medulla. ApoA-IV protein was the most abundant peptide in the amyloid deposits. However, molecular analysis was performed in only 2/11 patients, and no APOA4 mutations were found. PMID: 21900878 Sethi et al., 2012 52yo man with CKD and amyloid deposits in the medulla, harbouring 3 common, likely benign APOA4 variants: c.548G>A, p.(Thr29Thr); c.1678G>A, p.(Ser147Asn); c.2378G>T, p.(Gln380His). He also carried 2 APOA1 variants: c.60T>C, p.(His20His) - synonymous, not in gnomAD; c.209T>C, p.(Leu70Pro) - missense, not in gnomAD v4. APOA1 more likely to be causal? Only sequenced these 2 genes. Conflicting functional evidence: PMID: 39699959 Nakamura et al., 2024: TFEB downregulation in aged mice leads to APOA4 amyloidosis - variants in other genes may cause APOA4 to aggregate. APOA4 is linked to Tubulointerstitial kidney disease, autosomal dominant 6, MIM: 621106 (OMIM accessed 18th Dec 2025).; to: PMID: 38096951 Kmochova et al., 2024 3 distantly related families with (NM_000482.4):c.196C>G, p.Leu66Val, 2 distantly related families with c.97G>A, p.Asp33Asn. Method: WGS. Affected individuals presented with chronic kidney disease, with mean age of kidney failure of 64.5 years. Kidney biopsies from affected individuals showed amyloid deposits in the medulla, with Apoa4 protein being the main constituent. p.Leu66Val - 3 heterozygotes in gnomAD v4.1.0 (European), Revel score = 0.27 p.Asp33Asn - not in gnomAD v4, though p.Asp33Glu and p.Asp33Val have been reported; Revel score = 0.31 PMID: 33751222 Murakami et al., 2021 Report of a 68 yo Japanese man, with 4 variants in APOA4: 2 synonymous (p.Thr29Thr, p.Leu128Leu); '6981A>C',p.Asn248Thr; and c.743A>C, p.Asn248Thr - not in gnomAD v4. Only APOA4 was sequenced. Patient had history of renal cysts, diagnosed with HCM 2 years prior. Authors highlight that Apoa4 protein aggregation is causal, but the gene variant may not be. PMID: 28449784 Bois et al., 2017 13 patients with AApoAIV cardiac amyloidosis, mean age 75 years. Patients had cardiac dysfunction. Of 9 patients evaluated in detail, 8/9 had chronic kidney disease (various stages). Autopsy of 4 cases showed small vessel involvement and prominent medullary renal deposits Genetic analysis was performed, but 'did not identify definitive pathological mutations.' PMID: 27262366 Dasari et al. 2016 Reported 11 patients with Apolipoprotein A-IV associated amyloidosis (mean age at diagnosis 63.5yrs). Biopsies showed large amounts of eosinophilic Congo–red positive amyloid deposits restricted to the renal medulla. ApoA-IV protein was the most abundant peptide in the amyloid deposits. However, molecular analysis was performed in only 2/11 patients, and no APOA4 mutations were found. PMID: 21900878 Sethi et al., 2012 52yo man with CKD and amyloid deposits in the medulla, harbouring 3 common, likely benign APOA4 variants: c.548G>A, p.(Thr29Thr); c.1678G>A, p.(Ser147Asn); c.2378G>T, p.(Gln380His). He also carried 2 APOA1 variants: c.60T>C, p.(His20His) - synonymous, not in gnomAD; c.209T>C, p.(Leu70Pro) - missense, not in gnomAD v4. APOA1 more likely to be causal? Only sequenced these 2 genes. Conflicting functional evidence: PMID: 39699959 Nakamura et al., 2024: TFEB downregulation in aged mice leads to APOA4 amyloidosis - variants in other genes may cause APOA4 to aggregate. APOA4 is linked to Tubulointerstitial kidney disease, autosomal dominant 6, MIM: 621106 (OMIM accessed 18th Dec 2025). |
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| Tubulointerstitial kidney disease v3.13 | APOA4 | Ida Ertmanska changed review comment from: Comment on list classification: There are 5 distantly related families reported in literature with with chronic kidney disease, harbouring 2 different monoallelic missense variants. The variants segregated with disease in an autosomal dominant manner (PMID: 38096951). Other reports found that ApoA4 protein is the main component of amyloid deposits found in renal biopsies of patients with medullary amyloidosis. ApoA4 deposits have also been reported in cases of systemic amyloidosis, with renal and cardiac involvement. However, the affected individuals did not have pathogenic APOA4 mutations, suggesting variants in other genes may also lead to ApoA4 aggregation. Based on available evidence, this gene should be promoted to Green for Hereditary systemic amyloidosis.; to: Comment on list classification: There are 5 distantly related families reported in literature with with chronic kidney disease, harbouring 2 different monoallelic missense variants. The variants segregated with disease in an autosomal dominant manner (PMID: 38096951). Other reports found that ApoA4 protein is the main component of amyloid deposits found in renal biopsies of patients with medullary amyloidosis. ApoA4 deposits have also been reported in cases of systemic amyloidosis, with renal and cardiac involvement. However, the affected individuals did not have pathogenic APOA4 mutations, suggesting variants in other genes may also lead to ApoA4 aggregation. Based on available evidence, this gene should be promoted to Green for Tubulointerstitial kidney disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.13 | APOA4 | Ida Ertmanska edited their review of gene: APOA4: Added comment: Comment on list classification: There are 5 distantly related families reported in literature with with chronic kidney disease, harbouring 2 different monoallelic missense variants. The variants segregated with disease in an autosomal dominant manner (PMID: 38096951). Other reports found that ApoA4 protein is the main component of amyloid deposits found in renal biopsies of patients with medullary amyloidosis. ApoA4 deposits have also been reported in cases of systemic amyloidosis, with renal and cardiac involvement. However, the affected individuals did not have pathogenic APOA4 mutations, suggesting variants in other genes may also lead to ApoA4 aggregation. Based on available evidence, this gene should be promoted to Green for Hereditary systemic amyloidosis.; Changed rating: GREEN; Changed publications to: 21900878, 27262366, 28449784, 33751222, 38096951, 39699959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.13 | APOA4 | Ida Ertmanska Phenotypes for gene: APOA4 were changed from tubulointerstitial kidney disease; Chronic kidney disease to Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106; tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.12 | APOA4 | Ida Ertmanska Publications for gene: APOA4 were set to PMID 38096951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.11 | APOA4 | Ida Ertmanska Classified gene: APOA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.11 | APOA4 | Ida Ertmanska Gene: apoa4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.10 | APOA4 | Ida Ertmanska edited their review of gene: APOA4: Changed publications to: 21900878, 27262366, 33751222, 38096951, 39699959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.10 | APOA4 |
Ida Ertmanska changed review comment from: PMID: 38096951 Kmochova et al., 2024 3 distantly related families with (NM_000482.4):c.196C>G, p.Leu66Val, 2 distantly related families with c.97G>A, p.Asp33Asn. Affected individuals presented with chronic kidney disease, with mean age of kidney failure of 64.5 years. Kidney biopsies from affected individuals showed amyloid deposits in the medulla, with Apoa4 protein being the main constituent. p.Leu66Val - 3 heterozygotes in gnomAD v4.1.0 (European), Revel score = 0.27 p.Asp33Asn - not in gnomAD v4, though p.Asp33Glu and p.Asp33Val have been reported; Revel score = 0.31 PMID: 33751222 Murakami et al., 2021 Report of a 68 yo Japanese man, with 4 variants in APOA4: 2 synonymous (p.Thr29Thr, p.Leu128Leu); '6981A>C',p.Asn248Thr; and c.743A>C, p.Asn248Thr - not in gnomAD v4. Only APOA4 was sequenced. Patient had history of renal cysts, diagnosed with HCM 2 years prior. Authors highlight that Apoa4 protein aggregation is causal, but the gene variant may not be. PMID: 27262366 Dasari et al. 2016 Reported 11 patients with Apolipoprotein A-IV associated amyloidosis (mean age at diagnosis 63.5yrs). Biopsies showed large amounts of eosinophilic Congo–red positive amyloid deposits restricted to the renal medulla. ApoA-IV protein was the most abundant peptide in the amyloid deposits. However, molecular analysis was performed in only 2/11 patients, and no APOA4 mutations were found. PMID: 21900878 Sethi et al., 2012 52yo man with CKD and amyloid deposits in the medulla, harbouring 3 common, likely benign APOA4 variants: c.548G>A, p.(Thr29Thr); c.1678G>A, p.(Ser147Asn); c.2378G>T, p.(Gln380His). He also carried 2 APOA1 variants: c.60T>C, p.(His20His) - synonymous, not in gnomAD; c.209T>C, p.(Leu70Pro) - missense, not in gnomAD v4. APOA1 more likely to be causal? Only sequenced these 2 genes. Conflicting functional evidence: PMID: 39699959 Nakamura et al., 2024: TFEB downregulation in aged mice leads to APOA4 amyloidosis - variants in other genes may cause APOA4 to aggregate. APOA4 is linked to Tubulointerstitial kidney disease, autosomal dominant 6, MIM: 621106 (OMIM accessed 18th Dec 2025).; to: PMID: 38096951 Kmochova et al., 2024 3 distantly related families with (NM_000482.4):c.196C>G, p.Leu66Val, 2 distantly related families with c.97G>A, p.Asp33Asn. Method: WGS. Affected individuals presented with chronic kidney disease, with mean age of kidney failure of 64.5 years. Kidney biopsies from affected individuals showed amyloid deposits in the medulla, with Apoa4 protein being the main constituent. p.Leu66Val - 3 heterozygotes in gnomAD v4.1.0 (European), Revel score = 0.27 p.Asp33Asn - not in gnomAD v4, though p.Asp33Glu and p.Asp33Val have been reported; Revel score = 0.31 PMID: 33751222 Murakami et al., 2021 Report of a 68 yo Japanese man, with 4 variants in APOA4: 2 synonymous (p.Thr29Thr, p.Leu128Leu); '6981A>C',p.Asn248Thr; and c.743A>C, p.Asn248Thr - not in gnomAD v4. Only APOA4 was sequenced. Patient had history of renal cysts, diagnosed with HCM 2 years prior. Authors highlight that Apoa4 protein aggregation is causal, but the gene variant may not be. PMID: 27262366 Dasari et al. 2016 Reported 11 patients with Apolipoprotein A-IV associated amyloidosis (mean age at diagnosis 63.5yrs). Biopsies showed large amounts of eosinophilic Congo–red positive amyloid deposits restricted to the renal medulla. ApoA-IV protein was the most abundant peptide in the amyloid deposits. However, molecular analysis was performed in only 2/11 patients, and no APOA4 mutations were found. PMID: 21900878 Sethi et al., 2012 52yo man with CKD and amyloid deposits in the medulla, harbouring 3 common, likely benign APOA4 variants: c.548G>A, p.(Thr29Thr); c.1678G>A, p.(Ser147Asn); c.2378G>T, p.(Gln380His). He also carried 2 APOA1 variants: c.60T>C, p.(His20His) - synonymous, not in gnomAD; c.209T>C, p.(Leu70Pro) - missense, not in gnomAD v4. APOA1 more likely to be causal? Only sequenced these 2 genes. Conflicting functional evidence: PMID: 39699959 Nakamura et al., 2024: TFEB downregulation in aged mice leads to APOA4 amyloidosis - variants in other genes may cause APOA4 to aggregate. APOA4 is linked to Tubulointerstitial kidney disease, autosomal dominant 6, MIM: 621106 (OMIM accessed 18th Dec 2025). |
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| Tubulointerstitial kidney disease v3.10 | APOA4 |
Ida Ertmanska changed review comment from: PMID: 38096951 Kmochova et al., 2024 3 distantly related families with (NM_000482.4):c.196C>G, p.Leu66Val, 2 distantly related families with c.97G>A, p.Asp33Asn. Affected individuals presented with chronic kidney disease, with mean age of kidney failure of 64.5 years. Kidney biopsies from affected individuals showed amyloid deposits in the medulla, with Apoa4 protein being the main constituent. p.Leu66Val - 3 heterozygotes in gnomAD v4.1.0 (European), Revel score = 0.27 p.Asp33Asn - not in gnomAD v4, though p.Asp33Glu and p.Asp33Val have been reported; Revel score = 0.31 PMID: 33751222 Murakami et al., 2021 Report of a 68 yo Japanese man, with 4 variants in APOA4: 2 synonymous (p.Thr29Thr, p.Leu128Leu); '6981A>C',p.Asn248Thr; and c.743A>C, p.Asn248Thr - not in gnomAD v4. Patient had history of renal cysts, diagnosed with HCM 2 years prior. Authors highlight that Apoa4 protein aggregation is causal, but the gene variant may not be. PMID: 27262366 Dasari et al. 2016 Reported 11 patients with Apolipoprotein A-IV associated amyloidosis (mean age at diagnosis 63.5yrs). Biopsies showed large amounts of eosinophilic Congo–red positive amyloid deposits restricted to the renal medulla. ApoA-IV protein was the most abundant peptide in the amyloid deposits. However, molecular analysis was performed in only 2/11 patients, and no APOA4 mutations were found. PMID: 21900878 Sethi et al., 2012 52yo man with CKD and amyloid deposits in the medulla, harbouring 3 common, likely benign APOA4 variants: c.548G>A, p.(Thr29Thr); c.1678G>A, p.(Ser147Asn); c.2378G>T, p.(Gln380His). He also carried 2 APOA1 variants: c.60T>C, p.(His20His) - synonymous, not in gnomAD; c.209T>C, p.(Leu70Pro) - missense, not in gnomAD v4. APOA1 more likely to be causal? Only sequenced these 2 genes. Conflicting functional evidence: PMID: 39699959 Nakamura et al., 2024: TFEB downregulation in aged mice leads to APOA4 amyloidosis - variants in other genes may cause APOA4 to aggregate. APOA4 is linked to Tubulointerstitial kidney disease, autosomal dominant 6, MIM: 621106 (OMIM accessed 18th Dec 2025).; to: PMID: 38096951 Kmochova et al., 2024 3 distantly related families with (NM_000482.4):c.196C>G, p.Leu66Val, 2 distantly related families with c.97G>A, p.Asp33Asn. Affected individuals presented with chronic kidney disease, with mean age of kidney failure of 64.5 years. Kidney biopsies from affected individuals showed amyloid deposits in the medulla, with Apoa4 protein being the main constituent. p.Leu66Val - 3 heterozygotes in gnomAD v4.1.0 (European), Revel score = 0.27 p.Asp33Asn - not in gnomAD v4, though p.Asp33Glu and p.Asp33Val have been reported; Revel score = 0.31 PMID: 33751222 Murakami et al., 2021 Report of a 68 yo Japanese man, with 4 variants in APOA4: 2 synonymous (p.Thr29Thr, p.Leu128Leu); '6981A>C',p.Asn248Thr; and c.743A>C, p.Asn248Thr - not in gnomAD v4. Only APOA4 was sequenced. Patient had history of renal cysts, diagnosed with HCM 2 years prior. Authors highlight that Apoa4 protein aggregation is causal, but the gene variant may not be. PMID: 27262366 Dasari et al. 2016 Reported 11 patients with Apolipoprotein A-IV associated amyloidosis (mean age at diagnosis 63.5yrs). Biopsies showed large amounts of eosinophilic Congo–red positive amyloid deposits restricted to the renal medulla. ApoA-IV protein was the most abundant peptide in the amyloid deposits. However, molecular analysis was performed in only 2/11 patients, and no APOA4 mutations were found. PMID: 21900878 Sethi et al., 2012 52yo man with CKD and amyloid deposits in the medulla, harbouring 3 common, likely benign APOA4 variants: c.548G>A, p.(Thr29Thr); c.1678G>A, p.(Ser147Asn); c.2378G>T, p.(Gln380His). He also carried 2 APOA1 variants: c.60T>C, p.(His20His) - synonymous, not in gnomAD; c.209T>C, p.(Leu70Pro) - missense, not in gnomAD v4. APOA1 more likely to be causal? Only sequenced these 2 genes. Conflicting functional evidence: PMID: 39699959 Nakamura et al., 2024: TFEB downregulation in aged mice leads to APOA4 amyloidosis - variants in other genes may cause APOA4 to aggregate. APOA4 is linked to Tubulointerstitial kidney disease, autosomal dominant 6, MIM: 621106 (OMIM accessed 18th Dec 2025). |
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| Tubulointerstitial kidney disease v3.10 | APOA4 |
Ida Ertmanska changed review comment from: PMID: 38096951 Kmochova et al., 2024 3 distantly related families with (NM_000482.4):c.196C>G, p.Leu66Val, 2 distantly related families with c.97G>A, p.Asp33Asn. Affected individuals presented with chronic kidney disease, with mean age of kidney failure of 64.5 years. Kidney biopsies from affected individuals showed amyloid deposits in the medulla, with Apoa4 protein being the main constituent. p.Leu66Val - 3 heterozygotes in gnomAD v4.1.0 (European), Revel score = 0.27 p.Asp33Asn - not in gnomAD v4, though p.Asp33Glu and p.Asp33Val have been reported; Revel score = 0.31 PMID: 33751222 Murakami et al., 2021 Report of a 68 yo Japanese man, with 4 variants in APOA4: 2 synonymous (p.Thr29Thr, p.Leu128Leu); '6981A>C',p.Asn248Thr; and c.743A>C, p.Asn248Thr - not in gnomAD v4. Patient had history of renal cysts, diagnosed with HCM 2 years prior. Authors highlight that Apoa4 protein aggregation is causal, but the gene variant may not be. PMID: 27262366 Dasari et al. 2016 Reported 11 patients with Apolipoprotein A-IV associated amyloidosis (mean age at diagnosis 63.5yrs). Biopsies showed large amounts of eosinophilic Congo–red positive amyloid deposits restricted to the renal medulla. ApoA-IV protein was the most abundant peptide in the amyloid deposits. However, molecular analysis was performed in only 2/11 patients, and no APOA4 mutations were found. PMID: 21900878 Sethi et al., 2012 52yo man with CKD and amyloid deposits in the medulla, harbouring 3 common, likely benign APOA4 variants: c.548G>A, p.(Thr29Thr); c.1678G>A, p.(Ser147Asn); c.2378G>T, p.(Gln380His). He also carried 2 APOA1 variants: c.60T>C, p.(His20His) - synonymous, not in gnomAD; c.209T>C, p.(Leu70Pro) - missense, not in gnomAD v4. APOA1 more likely to be causal? Only sequenced these 2 genes. Conflicting functional evidence: TFEB downregulation in aged mice leads to APOA4 amyloidosis - variants in other genes may cause APOA4 to aggregate. APOA4 is linked to Tubulointerstitial kidney disease, autosomal dominant 6, MIM: 621106 (OMIM accessed 18th Dec 2025).; to: PMID: 38096951 Kmochova et al., 2024 3 distantly related families with (NM_000482.4):c.196C>G, p.Leu66Val, 2 distantly related families with c.97G>A, p.Asp33Asn. Affected individuals presented with chronic kidney disease, with mean age of kidney failure of 64.5 years. Kidney biopsies from affected individuals showed amyloid deposits in the medulla, with Apoa4 protein being the main constituent. p.Leu66Val - 3 heterozygotes in gnomAD v4.1.0 (European), Revel score = 0.27 p.Asp33Asn - not in gnomAD v4, though p.Asp33Glu and p.Asp33Val have been reported; Revel score = 0.31 PMID: 33751222 Murakami et al., 2021 Report of a 68 yo Japanese man, with 4 variants in APOA4: 2 synonymous (p.Thr29Thr, p.Leu128Leu); '6981A>C',p.Asn248Thr; and c.743A>C, p.Asn248Thr - not in gnomAD v4. Patient had history of renal cysts, diagnosed with HCM 2 years prior. Authors highlight that Apoa4 protein aggregation is causal, but the gene variant may not be. PMID: 27262366 Dasari et al. 2016 Reported 11 patients with Apolipoprotein A-IV associated amyloidosis (mean age at diagnosis 63.5yrs). Biopsies showed large amounts of eosinophilic Congo–red positive amyloid deposits restricted to the renal medulla. ApoA-IV protein was the most abundant peptide in the amyloid deposits. However, molecular analysis was performed in only 2/11 patients, and no APOA4 mutations were found. PMID: 21900878 Sethi et al., 2012 52yo man with CKD and amyloid deposits in the medulla, harbouring 3 common, likely benign APOA4 variants: c.548G>A, p.(Thr29Thr); c.1678G>A, p.(Ser147Asn); c.2378G>T, p.(Gln380His). He also carried 2 APOA1 variants: c.60T>C, p.(His20His) - synonymous, not in gnomAD; c.209T>C, p.(Leu70Pro) - missense, not in gnomAD v4. APOA1 more likely to be causal? Only sequenced these 2 genes. Conflicting functional evidence: PMID: 39699959 Nakamura et al., 2024: TFEB downregulation in aged mice leads to APOA4 amyloidosis - variants in other genes may cause APOA4 to aggregate. APOA4 is linked to Tubulointerstitial kidney disease, autosomal dominant 6, MIM: 621106 (OMIM accessed 18th Dec 2025). |
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| Tubulointerstitial kidney disease v3.10 | APOA4 | Ida Ertmanska edited their review of gene: APOA4: Changed publications to: 21900878 27262366, 33751222, 38096951, 39699959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.10 | APOA4 | Ida Ertmanska reviewed gene: APOA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 38096951; Phenotypes: Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106, tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.10 | APOA4 |
Nour Elkhateeb gene: APOA4 was added gene: APOA4 was added to Tubulointerstitial kidney disease. Sources: Literature Mode of inheritance for gene: APOA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA4 were set to PMID 38096951 Phenotypes for gene: APOA4 were set to tubulointerstitial kidney disease; Chronic kidney disease Penetrance for gene: APOA4 were set to unknown Review for gene: APOA4 was set to GREEN Added comment: Kmochova et al. (2024) (PMID: 38096951) reported 35 patients from 5 large unrelated families with onset of tubulointerstitial kidney disease in late adulthood associated with mutations in the APOA4 gene. Sources: Literature |
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