Renal and urinary tract disorders

Gene: UMOD

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported in Hyperuricemic nephropathy, familial juvenile 1 162000 and one each in Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 and Medullary cystic kidney disease 2 603860

Created: 5 Aug 2016, 12:51 p.m.

Comment on list classification: Not CAKUT associated.

Created: 25 Apr 2016, 1:05 p.m.

Comment on list classification: Demoted from green due to comment from a second reviewer.

Created: 22 Apr 2016, 12:30 p.m.

Red List (low evidence)

In humans UMOD mutations are generally associated with medullary cystic kidneys. In the late stage of disease these may appear small and contain cysts but these are more correctly thought of as acquired problems rather than being present at birth.

Created: 22 Apr 2016, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Green List (high evidence)

Phenotype is associated with missense mutations/in-frame insert/deletion predicted to cause protein miss-folding.
This gene is not associated with CAKUT pe se - typically cysts are late feature.

Created: 16 Oct 2015, 3:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Medullary cystic kidney disease type 2; Glomerulocystic kidney disease with hyperuricemia; Juvenile Hyperuricemic nephropathy

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments