Childhood onset hereditary spastic paraplegia
Gene: BSCL2
Potentially only missense mutations. Majority of cases AR Lipodystrophy, congenital generalized.Created: 3 May 2019, 4:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Silver spastic paraplegia syndrome
Silver spastic paraplegia syndrome; Onset of symptoms varies widely with childhood reported (13680364)Created: 14 Jan 2019, 4:21 p.m.
Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, OMIM:270685 to Silver spastic paraplegia syndrome, OMIM:270685; Neuropathy, distal hereditary motor, type VC, OMIM:619112
Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, OMIM:270685
Publications for gene: BSCL2 were set to 13680364; 14981520
Source Yorkshire and North East GLH was added to BSCL2.
Source NHS GMS was added to BSCL2.
Source London North GLH was added to BSCL2.
Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2 Publications for gene BSCL2 were changed from 14981520; 13680364 to 13680364; 14981520
Arianna Tucci: Silver spastic paraplegia synd
Publications for gene: BSCL2 were set to 14981520
Publications for gene: BSCL2 were set to Windpassinger et al. (2004)
Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, 270685
gene: BSCL2 was added gene: BSCL2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BSCL2 were set to Windpassinger et al. (2004) Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome,