Unexplained kidney failure in young people
Gene: MUC1Comment 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
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for MUC1 were set to Medullary cystic kidney disease 1 174000
Mode of inheritance for MUC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for MUC1 were set to 23396133; 24670410; 27157321; 25738250
MUC1 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN
MUC1 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Phenotypes for MUC1 were set to Tubulointerstitial kidney disease; Medullary cystic kidney disease 1, 174000
MUC1 was created by sleigh
MUC1 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Expert Review Red