Hereditary spastic paraplegia
Gene: BSCL2EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
2 reviews
helen kingston (CMFT NHS Foundation Trust, Manchester)
emma baple (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Silver syndrome (Hereditary Spastic Paraplegia)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Silver spastic paraplegia syndrome, OMIM:270685
- OMIM
- 606158
- Clinvar variants
- Variants in BSCL2
- Penetrance
- Complete
- Publications
-
- Windpassinger et al. (2004)
- Panels with this gene
-
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Familial diabetes
- Adult onset neurodegenerative disorder
- Neonatal diabetes
- Paediatric motor neuronopathies
- Hereditary spastic paraplegia
- Lipodystrophy - childhood onset
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset hereditary spastic paraplegia
- Monogenic diabetes
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, OMIM:270685
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)BSCL2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)BSCL2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)BSCL2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list