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  3. BSCL2
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Motor Neurone Disease

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable age of onset.
Created: 28 Sep 2020, 5:10 a.m. | Last Modified: 28 Sep 2020, 5:10 a.m.
Panel Version: 0.99
Created: 28 Sep 2020, 5:10 a.m.
Last Modified: 28 Sep 2020, 5:10 a.m.
Panel version: 0.99

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

The HSP and distal HMN caused by this gene can be classified as a non-ALS MND, affecting both upper and lower motor neurons.
Sources: Expert list
Created: 19 Jun 2020, 3:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Silver spastic paraplegia syndrome MIM#270685; Neuropathy, distal hereditary motor, type VA MIM#600794

Publications

Created: 19 Jun 2020, 3:54 a.m.

Panel version: 0.39

History Filter Activity

19 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bscl2 has been classified as Green List (High Evidence).

19 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BSCL2 was added gene: BSCL2 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BSCL2 were set to 16765570 Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Neuropathy, distal hereditary motor, type VA MIM#600794 Review for gene: BSCL2 was set to GREEN