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  2. CAKUT
  3. MUC1
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CAKUT

Gene: MUC1

Red List (low evidence)
MUC1 (mucin 1, cell surface associated)
EnsemblGeneIds (GRCh38): ENSG00000185499
EnsemblGeneIds (GRCh37): ENSG00000185499
OMIM: 158340, Gene2Phenotype
MUC1 is in 6 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Associated with phenotype not related to CAKUT therefore red.
Created: 25 Apr 2016, 12:55 p.m.
Comment on list classification: Promoted from red to amber for discussion internally.
Created: 30 Mar 2016, 9:23 a.m.
Created: 30 Mar 2016, 9:23 a.m.

Panel version: 0.59

Helen Stuart (University of Manchester)

Green List (high evidence)

Not a CAKUT gene, kidneys usually normal at birth.
Mutations are dupC in a variable tandem repeat region of MUC1 and thought to be resistant to WGS.
Created: 18 Oct 2015, 8:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Created: 18 Oct 2015, 8:32 p.m.

Panel version: 0

Details

Sources
  • Expert Review Red
  • 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

25 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MUC1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen