ClinGen Dosage Sensitivity Curation Page

SCARB2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Mutations in SCARB2 are associated with autosomal recessive progressive myoclonic epilepsy with or without renal failure. Of note, there have been rare reports of heterozygotes (or reported heterozygotes) exhibiting symptoms of the disorder. In one report (PMID:22032306), a heterozygous sibling of homozygous affected individuals exhibited seizures and polyneuropathy; in this same report, screening of unselected invididuals with polyneuropathy identified 2 heterozygous carriers of the same frameshift mutation (not found in 50 controls). In the other report (PMID:19454373), an individual with progressive myoclonic epilepsy was found to have one missense mutation; a second mutation could not be detected, though deletion/duplication analysis was not pursued. A recent report also suggested that heterozygous changes in SCARB2 could account for a more severe phenotype amongst individuals with Gaucher disease (PMID:21796727)

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No reports found describing duplications of SCARB2.