Adult onset hereditary spastic paraplegia
Gene: BSCL2
Potentially only missense mutations. Majority of cases AR Lipodystrophy, congenital generalised. No evidence of adult onset.Created: 3 May 2019, 4:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Silver spastic paraplegia syndrome, 270685
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
Source Yorkshire and North East GLH was added to BSCL2.
Source Expert Review Green was added to BSCL2. Mode of inheritance for gene BSCL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to BSCL2.
gene: BSCL2 was added gene: BSCL2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: BSCL2 was set to