Childhood onset hereditary spastic paraplegia
Gene: SPG11
Adult and childhood onsetCreated: 10 May 2019, 9:59 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.
several mutations in several unrelated families causing SPG11. In sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, 604360; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR; Charcot-Marie-Tooth disease, axonal, type 2X 616668, AR
onset during infancy or adolescenceCreated: 25 Feb 2019, 11:01 a.m.
Source Yorkshire and North East GLH was added to SPG11.
Source NHS GMS was added to SPG11.
Source London North GLH was added to SPG11.
Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360 for gene: SPG11 Publications for gene SPG11 were changed from 17322883; 16699786 to 16699786; 17322883
Arianna Tucci: Onset at birth
Publications for gene: SPG11 were set to Stevanin et al. (2007)
Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive to Spastic paraplegia 11, autosomal recessive, 604360
gene: SPG11 was added gene: SPG11 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: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to Stevanin et al. (2007) Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive