Hereditary spastic paraplegia - childhood onset
Gene: UCHL1
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.
spasticity, cerebellar ataxia, peripheral neuropathy, and myokymia, consistent with systemic neurodegeneration and deficits at the neuromuscular junction.2x 3 sibs in 2 x unrealated families with SPG79Created: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 79, autosomal recessive, 615491, AR
Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, OMIM:615491
Publications for gene: UCHL1 were set to 29735986; 28007905; 23359680
Publications for gene: UCHL1 were set to
Source Yorkshire and North East GLH was added to UCHL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, 615491, AR
Mode of inheritance for gene: UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: uchl1 has been classified as Green List (High Evidence).
Source NHS GMS was added to UCHL1.
gene: UCHL1 was added gene: UCHL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH Mode of inheritance for gene: UCHL1 was set to