Childhood onset hereditary spastic paraplegia
Gene: REEP1
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 current HSP panel and In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 31, autosomal dominant, 610250
Onset of SPG31 first or second decadeCreated: 14 Jan 2019, 5:21 p.m.
Publications for gene: REEP1 were set to 16826527
Source Yorkshire and North East GLH was added to REEP1.
Source NHS GMS was added to REEP1.
Source London North GLH was added to REEP1.
Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Arianna Tucci: Onset of SPG31 first or second
Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant to Spastic paraplegia 31, autosomal dominant, 610250
Publications for gene: REEP1 were set to Zuchner et al. (2006)
gene: REEP1 was added gene: REEP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: REEP1 were set to Zuchner et al. (2006) Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant