Proteinuric renal disease
Gene: SCARB2
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: SCARB2; Suggested initial gene rating: green; Evidence for inclusion: https://doi.org/10.1186/1471-2377-11-134;22032306; Other comments: Multiple reports of unrelated patients with nephrotic syndrome and epilepsy. One positive case in cohort of >600 SRNS referralsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 4, with or without renal failure #254900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: At least 4 families; epilepsy part of the phenotype.Created: 27 May 2016, 12:48 p.m.
Currently on UK diagnostic panel, 1 positive case, over 300 tested
Listed in several reviewsCreated: 19 Oct 2015, 3:16 p.m.
Phenotypes
Action myoclonus renal failure syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCARB2 were changed from to Action myoclonus renal failure syndrome; Epilepsy, progressive myoclonic 4, with or without renal failure #254900
Publications for gene: SCARB2 were set to
Source NHS GMS was added to SCARB2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SCARB2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SCARB2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
SCARB2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing