Familial diabetes
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
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added to the panel due to expert review.Created: 15 Jun 2016, 3:29 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Lipodystrophy, congenital generalized, type 2, OMIM:269700
- OMIM
- 606158
- Clinvar variants
- Variants in BSCL2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Neonatal diabetes
- Hereditary neuropathy or pain disorder
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Paediatric motor neuronopathies
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Hereditary spastic paraplegia
- Familial diabetes
- Lipodystrophy - childhood onset
- Monogenic diabetes
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Early onset or syndromic epilepsy
History Filter Activity
28 Jul 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy to Lipodystrophy, congenital generalized, type 2, OMIM:269700
11 Feb 2021, Gel status: 3
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Removed was removed from gene: BSCL2
27 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BSCL2 were set to Berardinelli-Seip congenital lipodystrophy
15 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
16 Oct 2015, Gel status: 0
Added New Source
Sian Ellard (University of Exeter Medical School)BSCL2 was added to Familial diabetespanel. Sources: Expert Review