Insulin resistance (including lipodystrophy)

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

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Generalised Lipodystrophy

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 11 Aug 2016, 9:36 a.m.
Comment on phenotypes: Also associated with Encephalopathy, progressive, with or without lipodystrophy 615924, Neuropathy, distal hereditary motor, type VA 60079, Silver spastic paraplegia syndrome 270685
Created: 11 Aug 2016, 9:35 a.m.
Comment on phenotypes: Also associated with Encephalopathy, progressive, with or without lipodystrophy 615924, Neuropathy, distal hereditary motor, type VA 600794 and Silver spastic paraplegia syndrome 270685
Created: 11 Aug 2016, 9:33 a.m.

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

11 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BSCL2 were set to Lipodystrophy, congenital generalized, type 2, 269700

11 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BSCL2 were set to Lipodystrophy, congenital generalized, type 2, 269700; Silver spastic paraplegia syndrome, 270685; Neuropathy, distal hereditary motor, type V, 600794; Berardinelli-Seip Congenital Lipodystrophy; Congenital Generalized Lipodystrophy Types 1 and 2

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN

24 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BSCL2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BSCL2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen