Childhood onset hereditary spastic paraplegia
Gene: BSCL2

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Potentially only missense mutations. Majority of cases AR Lipodystrophy, congenital generalized.
Created: 3 May 2019, 4:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

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

Created: 3 May 2019, 4:42 p.m.

Panel version: 1.73

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

Created: 28 Apr 2019, 5:14 p.m.

Panel version: 1.74

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

In Sheffields HSP panel
Created: 28 Apr 2019, 4:16 p.m.

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

Phenotypes
Silver spastic paraplegia syndrome

Created: 28 Apr 2019, 4:16 p.m.

Panel version: 1.6

Arianna Tucci (Genomics England Curator)

Silver spastic paraplegia syndrome; Onset of symptoms varies widely with childhood reported (13680364)
Created: 14 Jan 2019, 4:21 p.m.

Created: 14 Jan 2019, 4:21 p.m.

Panel version: 0.62

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Yorkshire and North East GLH
NHS GMS
London North GLH
Expert Review Green
Expert list
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Silver spastic paraplegia syndrome, OMIM:270685
Neuropathy, distal hereditary motor, type VC, OMIM:619112

OMIM

606158

Clinvar variants

Variants in BSCL2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, OMIM:270685 to Silver spastic paraplegia syndrome, OMIM:270685; Neuropathy, distal hereditary motor, type VC, OMIM:619112

28 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, OMIM:270685

13 May 2019, Gel status: 4