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Renal tubulopathies v1.181 | UMOD | Eleanor Williams Classified gene: UMOD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.181 | UMOD | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.181 | UMOD | Eleanor Williams Gene: umod has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.180 | UMOD | Eleanor Williams Publications for gene: UMOD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.179 | UMOD | Eleanor Williams Mode of inheritance for gene: UMOD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.82 | UMOD |
Eleanor Williams commented on gene: UMOD: Associated with Glomerulocystic kidney disease with hyperuricemia and isosthenuria #609886, Hyperuricemic nephropathy, familial juvenile 1 #162000 and Medullary cystic kidney disease 2 #603860 in OMIM. Many cases reported in OMIM. |
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Renal tubulopathies v1.68 | UMOD | Eleanor Williams Phenotypes for gene: UMOD were changed from to Hyperuricemic nephropathy, familial juvenile 1, 162000; Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.16 | UMOD | Eleanor Williams reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperuricemic nephropathy, familial juvenile 1, MIM 162000, Glomerulocystic kidney disease with hyperuricemia and isosthenuria, MIM 609886, Medullary cystic kidney disease 2, MIM 603860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.15 | UMOD |
Eleanor Williams gene: UMOD was added gene: UMOD was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: UMOD was set to |