BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: BSCL2

BSCL2 (BSCL2, seipin lipid droplet biogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

gilissen_2014_known; omim_20150205_movement; manju_list; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; NA
Created: 7 Feb 2017, 4:13 p.m.

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

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

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

Created: 7 Feb 2017, 4:13 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE

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

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BSCL2 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source