Renal ciliopathies

Gene: MUC1

Red List (low evidence)

MUC1 (mucin 1, cell surface associated)
EnsemblGeneIds (GRCh38): ENSG00000185499
EnsemblGeneIds (GRCh37): ENSG00000185499
OMIM: 158340, Gene2Phenotype
MUC1 is in 8 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Adult onset medullary cystic kidney disease. Unlikely to be recruited under the eligibility criteria for this gene panel
Created: 25 Jan 2017, 1:51 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
OMIM
158340
Clinvar variants
Variants in MUC1
Penetrance
None
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: MUC1 was added gene: MUC1 was added to Renal ciliopathies. Sources: UKGTN,Expert list,Expert Review Red Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MUC1 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel