Renal ciliopathies

Gene: SEC63

Red List (low evidence)

SEC63 (SEC63 homolog, protein translocation regulator)
EnsemblGeneIds (GRCh38): ENSG00000025796
EnsemblGeneIds (GRCh37): ENSG00000025796
OMIM: 608648, Gene2Phenotype
SEC63 is in 8 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Known to cause polycystic liver disease without renal involvement so would not fulfil entry criteria for this gene panel
Created: 25 Jan 2017, 9:36 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
OMIM
608648
Clinvar variants
Variants in SEC63
Penetrance
None
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SEC63 was added gene: SEC63 was added to Renal ciliopathies. Sources: UKGTN,Expert list,Expert Review Red Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEC63 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel