Adult 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
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
several mutations in several unrelated families causing SPG11. In sheffields HSP panelCreated: 25 Apr 2019, 1:22 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
Publications for gene: SPG11 were set to
Source Yorkshire and North East GLH was added to SPG11.
Source Expert Review Green was added to SPG11. Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR for gene: SPG11 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SPG11.
gene: SPG11 was added gene: SPG11 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPG11 was set to