Unexplained kidney failure in young people

Gene: MUC1

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Single cytosine insertions variants into VNTR in reported numerous families.

Created: 5 Aug 2016, 7:26 a.m.

Comment on list classification: Strong evidence from the literature

Created: 27 Jun 2016, 9:06 a.m.

Green List (high evidence)

Pathogenic mutations all introduce a heterozygous frameshift change within a 60-bp coding VNTR (exon 2) that has a GC content of 82%. Therefore these mutations have been difficult to detect using WGS. Mutations elsewhere in the gene have not been associated with this disease.

Created: 17 Jun 2016, 10:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tubulointerstitial kidney disease; Medullary cystic kidney disease

Publications

• PMID: 23396133
• 24670410
• 27157321
• 25738250

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