Cystic kidney disease
Gene: MUC1
MUC1 (mucin 1, cell surface associated)
EnsemblGeneIds (GRCh38): ENSG00000185499
EnsemblGeneIds (GRCh37): ENSG00000185499
OMIM: 158340, Gene2Phenotype
MUC1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000185499
EnsemblGeneIds (GRCh37): ENSG00000185499
OMIM: 158340, Gene2Phenotype
MUC1 is in 6 panels
3 reviews
Aakash Joshi (St George's Hospital)
Discussed with PanelApp team and due to technical difficulties of sequencing MUC1 with short read whole genome sequencing, recommended to place gene as Amber.
PMCID 11068942 identified that 8 individuals in their cohort of individuals with a pathogenic monoallelic MUC1 variant had renal cysts.
PMID 24509297 identified that 14 patients out of their 35 had renal cysts, but it is difficult to interpret the level of cystic disease as the data presented in the paper is relating to the kidney rather than the individual patient.Created: 1 Oct 2026, 12:54 p.m. | Last Modified: 1 Oct 2026, 12:54 p.m.
Panel Version: 9.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cystic renal disease
Publications
Miranda Durkie (Genetics)
Ellen Thomas (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Medullary cystic kidney disease 1, 174000
- OMIM
- 158340
- Clinvar variants
- Variants in MUC1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MUC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MUC1 was added to Cystic kidney diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MUC1 was added to Cystic kidney diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert