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Rare multisystem ciliopathy disorders

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

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.
Created: 25 Jan 2017, 1:51 p.m.

Panel version: 0.471

Details

Mode of Inheritance
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
OMIM
158340
Clinvar variants
Variants in MUC1
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

MUC1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene MUC1 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MUC1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MUC1 was created by ellenmcdonagh