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| Renal tubulopathies v1.142 | OCRL | Eleanor Williams Publications for gene: OCRL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.141 | OCRL | Eleanor Williams Mode of inheritance for gene: OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.140 | OCRL | Eleanor Williams Classified gene: OCRL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.140 | OCRL | Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as Dent disease is covered by the 'R256 Nephrocalcinosis or nephrolithiasis' panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.140 | OCRL | Eleanor Williams Gene: ocrl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | OCRL |
Eleanor Williams commented on gene: OCRL: Associated with Dent disease 2 #300555 and Lowe syndrome #309000 in OMIM both with reported renal clinical features. Many cases of association between variants in OCRL and these diseases reported in OMIM. e.g. PMID: 10364518 (Satre et al 1999) reports on 8 famlies with Lowe Syndrome. Five of these eight pedigrees had a family history of at least two male patients carrying a clinical diagnosis of Lowe syndrome on the basis of the classic triad of defects affecting lens, brain and kidney. Seven new mutations and one recurrent mutation were identified in the OCRL1 gene in one carrier mother and in seven affected patients. They identified a germ-line mosaicism in one family. |
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| Renal tubulopathies v1.52 | OCRL | Eleanor Williams Phenotypes for gene: OCRL were changed from to Dent disease 2, 300555. Lowe syndrome, 309000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | OCRL | Eleanor Williams reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dent disease 2, MIM 300555. Lowe syndrome, MIM 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | OCRL |
Eleanor Williams gene: OCRL was added gene: OCRL was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: OCRL was set to |
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