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
2 reviews
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