Renal and urinary tract disorders

Gene: MUC1

Green List (high evidence)

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

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.

Green List (high evidence)

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