Childhood onset hereditary spastic paraplegia
Gene: SPART
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.
victoria: Several publications - lower limb spasticity and hyperreflexia, short stature, dysarthria, and delayed motor and cognitive development.In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 20, autosomal recessive, Troyer syndrome
Onset in childhoodCreated: 25 Feb 2019, 10:55 a.m.
Publications for gene: SPART were set to 12134148; 18413476; 26003402; 20301556
Phenotypes for gene: SPART were changed from Troyer syndrome, 275900; Spastic paraplegia 20 to Troyer syndrome, OMIM:275900; Spastic paraplegia 20
Phenotypes for gene: SPART were changed from Troyer syndrome, 275900 to Troyer syndrome, 275900; Spastic paraplegia 20
Publications for gene: SPART were set to 12134148
Source Yorkshire and North East GLH was added to SPART.
Source NHS GMS was added to SPART.
Source London North GLH was added to SPART.
Added phenotypes Troyer syndrome, 275900 for gene: SPART
Arianna Tucci: Onset at birth
Publications for gene: SPART were set to Patel et al. (2002
Phenotypes for gene: SPART were changed from to Troyer syndrome, 275900
gene: SPART was added gene: SPART was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to Patel et al. (2002