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Epileptic encephalopathy

Gene: BSCL2

Green List (high evidence)

BSCL2 (BSCL2, seipin lipid droplet biogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Three biallelic variants were reported in encephalopathy, progressive, with or without lipodystrophy 615924 which includes seizures, cognitive decline and death in childhood. The variants were found in one homozygous case and two unrelated compound heterozygotes (one inferred from parental genotypes). Variant c.985C>T p.E329* was identified as a potiential founder variant (PMID 23564749).
Created: 14 Dec 2017, 4:45 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, with or without lipodystrophy 615924; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Silver spastic paraplegia syndrome 270685

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy 615924
  • Lipodystrophy, congenital generalized, type 2 269700
  • Neuropathy, distal hereditary motor, type VA 600794
  • Silver spastic paraplegia syndrome 270685
OMIM
606158
Clinvar variants
Variants in BSCL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

BSCL2 was added to Epileptic encephalopathy panel. Sources: Literature

14 Dec 2017, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

BSCL2 was created by Sarah Leigh