Diabetes - neonatal onset

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 17 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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)

Green List (high evidence)

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.

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BSCL2 were changed from Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, OMIM:269700

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BSCL2 were changed from Congenital generalised lipodystrophy, severe insulin resistance and diabetes to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BSCL2. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

27 Apr 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for BSCL2 were set to Congenital generalised lipodystrophy, severe insulin resistance and diabetes

27 Apr 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for BSCL2 were set to 11479539

18 Oct 2015, Gel status: 0

Added New Source

Sian Ellard (University of Exeter Medical School)

BSCL2 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Expert Review