Childhood onset hereditary spastic paraplegia
Gene: GBA2
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.
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: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 46, autosomal recessive, 614409
Onset of SPG46 in childhoodCreated: 14 Jan 2019, 4:52 p.m.
Publications for gene: GBA2 were set to 23332916
Source Yorkshire and North East GLH was added to GBA2.
Source NHS GMS was added to GBA2.
Source London North GLH was added to GBA2.
Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Arianna Tucci: Onset of SPG46 in childhood
Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Publications for gene: GBA2 were set to Martin et al. (2013)
gene: GBA2 was added gene: GBA2 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: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to Martin et al. (2013) Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive