1. Panels
  2. Renal and urinary tract disorders
  3. SEC63
STRs in panel
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Renal and urinary tract disorders

Gene: SEC63

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

2 reviews

Miranda Durkie (Genetics)

Green List (high evidence)

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Cystic kidney disease panel version 0

Ellen Thomas (Genomics England Curator)

Comment on list classification: Polycystic liver disease, not kidneys.
Created: 10 May 2016, 12:39 p.m.
Created: 10 May 2016, 12:39 p.m.

Panel version: Imported from Cystic kidney disease panel version 0.44

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
OMIM
608648
Clinvar variants
Variants in SEC63
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen Thomas: Comment on list classification

20 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SEC63 was added gene: SEC63 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: SEC63 was set to BIALLELIC, autosomal or pseudoautosomal