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  3. MUC1
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Renal Tubulointerstitial Disease

Gene: MUC1

Green List (high evidence)
MUC1 (mucin 1, cell surface associated)
EnsemblGeneIds (GRCh38): ENSG00000185499
EnsemblGeneIds (GRCh37): ENSG00000185499
OMIM: 158340, Gene2Phenotype
MUC1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note disease is caused by variants affecting the VNTR sequence.
Created: 22 Jul 2020, 9:42 p.m. | Last Modified: 22 Jul 2020, 9:42 p.m.
Panel Version: 0.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Medullary cystic kidney disease 1, MIM# 174000

Publications

Created: 22 Jul 2020, 9:42 p.m.
Last Modified: 22 Jul 2020, 9:42 p.m.
Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Medullary cystic kidney disease 1, MIM# 174000
OMIM
158340
Clinvar variants
Variants in MUC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: muc1 has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1, MIM# 174000

22 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MUC1 were set to

22 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MUC1 was added gene: MUC1 was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: MUC1 was set to Unknown