Hereditary spastic paraplegia
Gene: BSCL2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Silver syndrome (Hereditary Spastic Paraplegia)
Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, OMIM:270685
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BSCL2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list
Model of inheritance for gene BSCL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BSCL2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list
BSCL2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list