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  2. Paediatric motor neuronopathies
  3. BSCL2
STRs in panel
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Paediatric motor neuronopathies

Gene: BSCL2

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

2 reviews

Pinki Munot (Consultant )

Green List (high evidence)

functional studies support the Role of BSCL2 in dHMNV
Created: 2 Mar 2017, 7:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
distal motor neuronopathy type 5; silver syndrome; hereditary spastic paraparesis

Publications

Created: 2 Mar 2017, 7:59 p.m.

Panel version: 0.89

Alice Gardham (Genomics England)

Comment on list classification: Not correct phenotype for panel
Created: 26 Jan 2017, 11:21 a.m.
Created: 2 Nov 2016, 1:37 p.m.

Panel version: 0.13

History Filter Activity

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

7 Mar 2017, Gel status: 1

Set publications

Arianna Tucci (Genomics England Curator)

Publications for BSCL2 were set to 14981520

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

BSCL2 was added to Paediatric motor neuronopathiespanel. Sources: Expert