This Panel is marked as Internal
DEMO Diabetes neonatal onset
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
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: BSCL2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Neonatal diabetes and generalised lipodystrophy.Created: 11 Jan 2019, 4:27 p.m.
Sian Ellard (University of Exeter Medical School)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked as ready, May 30th 2017.Created: 30 May 2017, 9:51 a.m.
Comment on list classification: Updated rating from Grey to Green after internal clinical discussion. Gene was added (and rated Green) by Sian Ellard. Aligning with green rating of BSCL2 on multiple diabetes PanelApp panels- although diabetes diagnosis is generally later for BSCL2 patients, neonatal cases are reported.Created: 30 May 2017, 9:51 a.m.
Elisa De-Franco (University of Exeter Medical School) reports 1 patient with neonatal diabetes as result of a mutation in BSCL2; the patient had hyperglycemia detected in the first 2 weeks of life and generalised lipodistrophy. Elisa notes that diabetes is usually diagnosed later on in patients with BSCL2 mutations [personal communication, May 24th 2017].
Created: 25 May 2017, 9:47 a.m.
PMID:11479539 (Magre et al., 2001) identify 11 families where Congenital generalized lipodystrophy maps to BSCL2 (neonatal diagnosis is not specifically mentioned). Congenital generalized lipodystrophy/Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance.
Created: 25 May 2017, 9:42 a.m.
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
- NHS GMS
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Congenital generalised lipodystrophy, severe insulin resistance and diabetes
- Neonatal diabetes and generalised lipodystrophy
- Lipodystrophy, congenital generalized, type 2, 269700
- OMIM
- 606158
- Clinvar variants
- Variants in BSCL2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neonatal diabetes
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Adult onset neurodegenerative disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Familial diabetes
- Lipodystrophy - childhood onset
- Early onset or syndromic epilepsy
- Paediatric motor neuronopathies
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
2 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: BSCL2 was added gene: BSCL2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Expert Review Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSCL2 were set to 11479539 Phenotypes for gene: BSCL2 were set to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700