Cystic kidney disease

Gene: SEC63

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 3 May 2024, 10:02 a.m. | Last Modified: 3 May 2024, 10:02 a.m.

Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

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

• 24886261

Green List (high evidence)

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

Green List (high evidence)

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

Publications

• 15133510

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.