Unexplained young onset end-stage renal disease
Gene: MUC1
Numerous reports of variants within VNTR associated with mutant protein and single report of 2bp deletion outside VNTR with equivalent effect on protein (PMID: 29156055). Note: variants within VNTR are unlikely to be detected by NGS.Created: 23 Oct 2019, 1:47 p.m. | Last Modified: 23 Oct 2019, 1:47 p.m.
Panel Version: 0.46
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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 literatureCreated: 27 Jun 2016, 9:06 a.m.
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
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Comment on list classification: Only one frameshift mutation resulting from a single 1bp insertion in a VNTR region. Hard to map, little evidence for other variants, and very polymorphic gene. Review further evidence before adding to panel.Created: 10 May 2016, 10:42 a.m.
Comment on list classification: Associated with phenotype not related to CAKUT therefore red.Created: 25 Apr 2016, 12:55 p.m.
Comment on list classification: Promoted from red to amber for discussion internally.Created: 30 Mar 2016, 9:23 a.m.
Not a CAKUT gene, kidneys usually normal at birth.
Mutations are dupC in a variable tandem repeat region of MUC1 and thought to be resistant to WGS.Created: 18 Oct 2015, 8:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Mode of pathogenicity for gene: MUC1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for gene: MUC1 were set to 25738250; 24670410; 23396133; 27157321
gene: MUC1 was added gene: MUC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MUC1 were set to 25738250; 24670410; 23396133; 27157321 Phenotypes for gene: MUC1 were set to Medullary cystic kidney disease 1, 174000; Medullary cystic kidney disease 1