Unexplained young onset end-stage renal disease
Gene: SEC63
Comment on list classification: As this gene has been tagged for promotion to green rating in 'Cystic kidney disease' panel (https://panelapp.genomicsengland.co.uk/panels/283/gene/SEC63/), this gene should be promoted to green rating in this panel as well.Created: 11 Jan 2024, 3:12 p.m. | Last Modified: 11 Jan 2024, 3:12 p.m.
Panel Version: 3.29
A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (PMID:24886261).Created: 11 Jan 2024, 3:10 p.m. | Last Modified: 11 Jan 2024, 3:10 p.m.
Panel Version: 3.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
Publications
Check of rating - currently red on all renal panels, green on Polycystic liver disease panel. So keep red.Created: 25 Sep 2019, 1:37 p.m. | Last Modified: 25 Sep 2019, 1:41 p.m.
Panel Version: 0.43
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Polycystic liver disease, not kidneys.Created: 10 May 2016, 12:39 p.m.
Gene: sec63 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
Publications for gene: SEC63 were set to
Mode of inheritance for gene: SEC63 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q4_23_promote_green tag was added to gene: SEC63.
gene: SEC63 was added gene: SEC63 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: SEC63 was set to BIALLELIC, autosomal or pseudoautosomal