Renal tubulopathies

Gene: UMOD

Green List (high evidence)

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 others

Created: 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