Hereditary spastic paraplegia - childhood onset
Gene: SPG7
Adult onset from age 15.Created: 10 May 2019, 10:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7, autosomal recessive
Onset typically occurs in adulthood, but can occurr early adolescence (14985266)Created: 25 Feb 2019, 11:10 a.m.
Source Yorkshire and North East GLH was added to SPG7.
Source NHS GMS was added to SPG7.
Source London North GLH was added to SPG7.
Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Arianna Tucci: Onset at birth
Publications for gene: SPG7 were set to Casari et al (1998)
Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, 607259
gene: SPG7 was added gene: SPG7 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: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to Casari et al (1998) Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive