Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

2 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review - Sian Ellard (University of Exeter Medical School).
Created: 23 Aug 2016, 11:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Berardinelli-Seip congenital lipodystrophy

Publications

History Filter Activity

23 Aug 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).

23 Aug 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).

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BSCL2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BSCL2 was created by ellenmcdonagh