1. Genes and Genomic Entities
  2. MUC1

MUC1

mucin 1, cell surface associated
OMIM: 158340, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green MUC1 in Tubulointerstitial kidney disease


Level 2: Renal
Version 3.15
Latest signed off version: v3.5 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Medullary cystic kidney disease 1 MIM 174000
    Red MUC1 in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Medullary cystic kidney disease 1, 174000
    Green MUC1 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Medullary cystic kidney disease 1 174000
    Red MUC1 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.181

    		review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Medullary cystic kidney disease 1, 174000
    Red MUC1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • UKGTN
    • Expert list
    Phenotypes
    • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
    Red MUC1 in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review 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