Tubulointerstitial kidney disease
Gene: UMOD
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: Mainly missense variants, few LoF;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Medullary cystic kidney disease 2 MIM 603860; Familial juvenile hyperuricemic nephropathy 1 MIM 162000
Publications
Mode of pathogenicity
Other - please provide details in the comments
gene: UMOD was added gene: UMOD was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 12471200; 14569098 Phenotypes for gene: UMOD were set to Medullary cystic kidney disease 2 MIM 603860; Familial juvenile hyperuricemic nephropathy 1 MIM 162000 Mode of pathogenicity for gene: UMOD was set to Other - please provide details in the comments