Cystic kidney disease
Gene: SEC63
Comment on list classification: As reviewed by Ian Berry, this gene should be considered for green rating in this panel in the next GMS review as there are sufficient cases of polycystic liver disease 2 with both renal and hepatic cysts.Created: 19 Sep 2023, 8:39 p.m. | Last Modified: 19 Sep 2023, 8:39 p.m.
Panel Version: 4.15
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: 19 Sep 2023, 8:37 p.m. | Last Modified: 19 Sep 2023, 8:37 p.m.
Panel Version: 4.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
Publications
Phenotype is predominantly hepatic but can involve renal cysts.
We have seen 2x patients with pathogenic findings in this gene through R193 referrals therefore it makes sense to be on this panel. R193 referrals frequently have both renal & hepatic cysts.
OMIM disorder name is polycystic liver disease-2 with or without kidney cysts (PCLD2)Created: 1 Sep 2023, 1:46 p.m. | Last Modified: 1 Sep 2023, 1:47 p.m.
Panel Version: 4.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Tag Q3_23_promote_green tag was added to gene: SEC63. Tag Q3_23_NHS_review tag was added to gene: SEC63.
Gene: sec63 has been classified as Amber List (Moderate Evidence).
Publications for gene: SEC63 were set to 15133510,
Publications for gene: SEC63 were set to
Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
Mode of inheritance for gene: SEC63 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
SEC63 was added to Cystic kidney diseasepanel. Sources: Expert