This Panel is marked as Retired
Epileptic encephalopathy
Gene: BSCL2
BSCL2 (BSCL2, seipin lipid droplet biogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
1 review
Sarah Leigh (Genomics England Curator)
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
-
- Intellectual disability
- Neonatal diabetes
- Insulin resistance (including lipodystrophy)
- Hereditary neuropathy or pain disorder
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Adult onset neurodegenerative disorder
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia
- Familial diabetes
- Lipodystrophy - childhood onset
- Childhood onset hereditary spastic paraplegia
- Paediatric motor neuronopathies
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
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