Likely inborn error of metabolism - targeted testing not possible
Gene: UMOD
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Promoted from Amber to Green. UMOD is associated with an appropriate phenotype on OMIM but not in Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.Created: 14 Oct 2019, 2:47 p.m. | Last Modified: 14 Oct 2019, 2:48 p.m.
Panel Version: 1.353
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperuricemic nephropathy, familial juvenile 1, 162000
Publications
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Unexplained kidney failure in young people
Publications for gene: UMOD were set to 27604308; 31422399; 29180396
Publications for gene: UMOD were set to 27604308
Gene: umod has been classified as Green List (High Evidence).
Source NHS GMS was added to UMOD. Source London North GLH was added to UMOD.
Sarah Leigh: Associated with phenotype in O
gene: UMOD was added gene: UMOD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 27604308 Phenotypes for gene: UMOD were set to Cystic kidney disease; Unexplained kidney failure in young people; Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)