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  3. BSCL2
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Hereditary Spastic Paraplegia - paediatric

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Variable age of onset, including paediatric onset.
Sources: Expert list
Created: 17 Apr 2020, 7 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Silver spastic paraplegia syndrome MIM#270685; Encephalopathy, progressive, with or without lipodystrophy MIM#615924

Created: 17 Apr 2020, 7 a.m.

Panel version: 0.12

History Filter Activity

17 Apr 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).

17 Apr 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).

17 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BSCL2 was added gene: BSCL2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Encephalopathy, progressive, with or without lipodystrophy MIM#615924 Review for gene: BSCL2 was set to GREEN