Renal tubulopathies
Gene: UMOD
Comment on list classification: Changing rating from red to green as > 3 cases reported.Created: 5 Sep 2019, 10:33 p.m. | Last Modified: 5 Sep 2019, 10:33 p.m.
Panel Version: 1.181
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.Created: 2 Sep 2019, 1:47 p.m. | Last Modified: 2 Sep 2019, 1:47 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: UMOD; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided; Other Comments: AD MIM 162000, no inheritance pattern for othersCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperuricemic nephropathy, familial juvenile 1, MIM 162000; Glomerulocystic kidney disease with hyperuricemia and isosthenuria, MIM 609886; Medullary cystic kidney disease 2, MIM 603860
Variants in this GENE are reported as part of current diagnostic practice
Gene: umod has been classified as Green List (High Evidence).
Publications for gene: UMOD were set to
Mode of inheritance for gene: UMOD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
gene: UMOD was added gene: UMOD was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: UMOD was set to