Ciliopathies
Gene: MUC1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree, some phenotypic overlap but not a ciliopathy and main variant type not currently readily tractable by NGS.
Created: 14 May 2020, 2:49 a.m. | Last Modified: 14 May 2020, 2:49 a.m.

Panel Version: 0.143

Created: 14 May 2020, 2:49 a.m.
Last Modified: 14 May 2020, 2:49 a.m.
Panel version: 0.143

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Multiple reports of variants within the variable number of tandem repeats (VNTR) region of MUC1, which is unlikely to be detected by current short-read NGS technologies. Not a ciliopathy gene membrane-bound mucin expressed mucosal epithelial cells (PMID: 29186029)

PMID: 29156055; Yamamoto et al 2017 - reported a single frameshift outside the VNTR region. Detected by WES.

PMID: 29520014; Wenzel et al 2018 - Used long read SMRT technology

PanelApp UK: Green in Tubulointerstitial kidney disease list, red in ciliopathy gene lists.
Created: 13 May 2020, 1:29 a.m. | Last Modified: 13 May 2020, 1:29 a.m.

Panel Version: 0.139

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Medullary cystic kidney disease 1 (MIM#174000)

Publications

Created: 13 May 2020, 1:29 a.m.
Last Modified: 13 May 2020, 1:29 a.m.
Panel version: 0.139

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Medullary cystic kidney disease 1 (MIM#174000)

OMIM

158340

Clinvar variants

Variants in MUC1

Penetrance

None

Publications

Panels with this gene