Ciliopathies
Gene: SEC63

SEC63 (SEC63 homolog, protein translocation regulator)
EnsemblGeneIds (GRCh38): ENSG00000025796
EnsemblGeneIds (GRCh37): ENSG00000025796
OMIM: 608648, Gene2Phenotype
SEC63 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree, not a ciliopathy. Retain as Amber due to phenotypic overlap.
Created: 4 May 2020, 11:23 a.m. | Last Modified: 4 May 2020, 11:23 a.m.

Panel Version: 0.103

Created: 4 May 2020, 11:23 a.m.
Last Modified: 4 May 2020, 11:23 a.m.
Panel version: 0.103

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

SEC63 plays a role in protein translocation and quality control pathways in the endoplasmic reticulum.

PMID: 15133510; Reported 7 variants in 8 unrelated families with AD polycystic kidney disease. "Implicates noncilial pathways in polycystic disease in the liver "

PMID: 19876928: "Sec63 are not ciliary proteins; they are involved in the ER processing of proteins"
Created: 4 May 2020, 6:19 a.m. | Last Modified: 4 May 2020, 6:19 a.m.

Panel Version: 0.78

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

Phenotypes
Polycystic liver disease 2 (MIM#617004)

Publications

Created: 4 May 2020, 6:19 a.m.
Last Modified: 4 May 2020, 6:19 a.m.
Panel version: 0.78

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Polycystic liver disease 2 (MIM#617004)

OMIM

608648

Clinvar variants

Variants in SEC63

Penetrance

None

Publications

Panels with this gene