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  2. BRIDGE_SPEED_NEURO_20170705
  3. BSCL2
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BRIDGE_SPEED_NEURO_20170705

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 15 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_gilissen_2014_known;in_omim_20150205_movement;in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 8:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • 24896178
  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED
  • Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 1:32 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 9:23 a.m.
Created: 31 Jul 2017, 9:23 a.m.

Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Lipodystrophy, congenital generalized, type 2, 269700
  • Silver spastic paraplegia syndrome, 270685
  • Neuropathy, distal hereditary motor, type VA, 600794
  • Encephalopathy, progressive, with or without lipodystrophy, 615924
OMIM
606158
Clinvar variants
Variants in BSCL2
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (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 VA, 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

BSCL2 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

BSCL2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green