1. Panels
  2. Polycystic liver disease
  3. SEC63
STRs in panel
Prev Next
Regions in panel
Prev Next

Polycystic liver disease

Gene: SEC63

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 4 Aug 2020, 12:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic Liver Disease 2 with or without kidney cysts (617004)

Publications

Created: 4 Aug 2020, 12:51 a.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic Liver Disease 2 with or without kidney cysts (617004)
OMIM
608648
Clinvar variants
Variants in SEC63
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec63 has been classified as Green List (High Evidence).

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec63 has been classified as Green List (High Evidence).

4 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEC63 was added gene: SEC63 was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC63 were set to 15133510 Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004) Review for gene: SEC63 was set to GREEN