Familial diabetes

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 16 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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)

Green List (high evidence)

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.

History Filter Activity

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