DEMO Diabetes neonatal onset
Gene: BSCL2
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.
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.
Comment on list classification: Gene added to the panel due to expert review.Created: 15 Jun 2016, 3:29 p.m.
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