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Proteinuric renal disease v2.50 | OCRL | Eleanor Williams Phenotypes for gene: OCRL were changed from LOWE OCULOCEREBRORENAL SYNDROME #309000; Dent disease 2 #300555 to Lowe syndrome, OMIM:309000; Dent disease 2, OMIM:300555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v2.49 | OCRL | Eleanor Williams commented on gene: OCRL: Genotype/Phenotype information: PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.225 | OCRL |
Eleanor Williams changed review comment from: Associated with Dent disease 2 (300555) and Lowe syndrome (309000) in OMIM. PMID: 21249396 - Tasic et al 2011 - 5 unrelated Macedonian patients with 4 different variants in OCRL. 2 diagnosed with Lowe Syndrome (both with LMWP and hypercalciuria) and 3 with Dent disease 2 (all with asymptomatic proteinuria). All five patients had LMWP and hypercalciuria/ PMID: 17384968 - Sekine et al 2007 - 3 distinct OCRL1 mutations in 3 patients with the Dent disease phenotype are described. All the patients manifested an extremely high degree of low-molecular-weight proteinuria and showed no ocular abnormalities or apparent mental retardation. Urinalysis and blood chemistry showed no findings suggestive of Fanconi syndrome with renal tubular acidosis. Mutations in CLCN5 were ruled out. The mutations identified in OCRL1 are one frame-shift mutation (I127stop) and two missense mutations (R301C and R476W). PMID: 27625797 - Böckenhauer et al 2012 - 14 CLCN5-negative patients from 12 families with a phenotype resembling Dent disease were assessed for defects in OCRL. In six of these kindreds three novel (c.149+1G>A, c.1126A>T, c.1547T>C) and three repeatedly observed mutations (c.166_167delTT, c.901C>T, c.1426C>T) were discovered. All showed low molecular weight proteinuria.; to: Associated with Dent disease 2 (300555) and Lowe syndrome (309000) in OMIM. PMID: 21249396 - Tasic et al 2011 - 5 unrelated Macedonian patients with 4 different variants in OCRL. 2 diagnosed with Lowe Syndrome (both with LMWP and hypercalciuria) and 3 with Dent disease 2 (all with asymptomatic proteinuria). All five patients had LMWP and hypercalciuria. Sex of patients not stated. PMID: 17384968 - Sekine et al 2007 - 3 distinct OCRL1 mutations in 3 male patients with the Dent disease phenotype are described. All the patients manifested an extremely high degree of low-molecular-weight proteinuria and showed no ocular abnormalities or apparent mental retardation. Urinalysis and blood chemistry showed no findings suggestive of Fanconi syndrome with renal tubular acidosis. Mutations in CLCN5 were ruled out. The mutations identified in OCRL1 are one frame-shift mutation (I127stop) and two missense mutations (R301C and R476W). PMID: 27625797 - Böckenhauer et al 2012 - 14 CLCN5-negative patients from 12 families with a phenotype resembling Dent disease were assessed for defects in OCRL. In six of these kindreds three novel (c.149+1G>A, c.1126A>T, c.1547T>C) and three repeatedly observed mutations (c.166_167delTT, c.901C>T, c.1426C>T) were discovered. All showed low molecular weight proteinuria. Sex of patients not explicitly stated but each had mothers who were 'carriers'. |
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Proteinuric renal disease v1.71 | OCRL | Eleanor Williams Phenotypes for gene: OCRL were changed from to LOWE OCULOCEREBRORENAL SYNDROME #309000; Dent disease 2 #300555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.70 | OCRL | Eleanor Williams Publications for gene: OCRL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.69 | OCRL | Eleanor Williams Mode of inheritance for gene: OCRL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.68 | OCRL | Eleanor Williams Classified gene: OCRL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.68 | OCRL | Eleanor Williams Added comment: Comment on list classification: More than three families have variants in OCRL and a disease phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.68 | OCRL | Eleanor Williams Gene: ocrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.67 | OCRL |
Eleanor Williams edited their review of gene: OCRL: Added comment: Associated with Dent disease 2 (300555) and Lowe syndrome (309000) in OMIM. PMID: 21249396 - Tasic et al 2011 - 5 unrelated Macedonian patients with 4 different variants in OCRL. 2 diagnosed with Lowe Syndrome (both with LMWP and hypercalciuria) and 3 with Dent disease 2 (all with asymptomatic proteinuria). All five patients had LMWP and hypercalciuria/ PMID: 17384968 - Sekine et al 2007 - 3 distinct OCRL1 mutations in 3 patients with the Dent disease phenotype are described. All the patients manifested an extremely high degree of low-molecular-weight proteinuria and showed no ocular abnormalities or apparent mental retardation. Urinalysis and blood chemistry showed no findings suggestive of Fanconi syndrome with renal tubular acidosis. Mutations in CLCN5 were ruled out. The mutations identified in OCRL1 are one frame-shift mutation (I127stop) and two missense mutations (R301C and R476W). PMID: 27625797 - Böckenhauer et al 2012 - 14 CLCN5-negative patients from 12 families with a phenotype resembling Dent disease were assessed for defects in OCRL. In six of these kindreds three novel (c.149+1G>A, c.1126A>T, c.1547T>C) and three repeatedly observed mutations (c.166_167delTT, c.901C>T, c.1426C>T) were discovered. All showed low molecular weight proteinuria.; Changed publications: PMID: 21249396, PMID: 17384968; Changed phenotypes: LOWE OCULOCEREBRORENAL SYNDROME #309000, Dent disease 2 #300555 |
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Proteinuric renal disease v1.16 | OCRL | Eleanor Williams reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 21249396 , PMID: 17384968 ; Phenotypes: LOWE OCULOCEREBRORENAL SYNDROME #309000, Dent disease 2 #300555; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.15 | OCRL |
Eleanor Williams gene: OCRL was added gene: OCRL was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: OCRL was set to |