Adult onset hereditary spastic paraplegia
Gene: GBA2
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.
Victoria: early onset of progressive spastic paraparesis, cerebellar ataxia, mental impairment, cataracts, cerebral, cerebellar and corpus callosum atrophy, and infertility in males. Several unrelated families published with mutation. In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 46, autosomal recessive, 614409
Publications for gene: GBA2 were set to
Source Yorkshire and North East GLH was added to GBA2.
Source Expert Review Green was added to GBA2. Mode of inheritance for gene GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to GBA2.
gene: GBA2 was added gene: GBA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: GBA2 was set to