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Research panel - Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: BSCL2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) | Lipodystrophy, congenital generalized, type 2, 269700 (3) | Neuropathy, distal hereditary motor, type VA, 600794 (3) | Silver spastic paraplegia syndrome, 270685 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy, 615924
  • Silver spastic paraplegia syndrome, 270685
  • Lipodystrophy, congenital generalized, type 2, 269700
  • Neuropathy, distal hereditary motor, type VA, 600794
OMIM
606158
Clinvar variants
Variants in BSCL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene BSCL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene BSCL2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neuropathy, distal hereditary motor, type VA, 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700 for gene: BSCL2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to BSCL2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to BSCL2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BSCL2 was added gene: BSCL2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: BSCL2 was set to