Adult onset hereditary spastic paraplegia
Gene: SPARTThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Review of literature did not reveal any adult onset cases - childhood-onset spastic paraplegia
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 20 Aug 2021, 4:04 p.m. | Last Modified: 20 Aug 2021, 4:04 p.m.
Panel Version: 1.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, OMIM:275900
Publications
Childhood onset.Created: 22 Sep 2020, 5:26 a.m. | Last Modified: 22 Sep 2020, 5:26 a.m.
Panel Version: 1.7
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
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.
victoria: Several publications - lower limb spasticity and hyperreflexia, short stature, dysarthria, and delayed motor and cognitive development.In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 20, autosomal recessive; Troyer syndrome
Tag Q3_21_phenotype was removed from gene: SPART.
Source Expert Review Amber was added to SPART. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: SPART were set to 12134148; 18413476; 26003402; 20301556
Tag Q3_21_phenotype tag was added to gene: SPART.
Phenotypes for gene: SPART were changed from Troyer syndrome; Spastic paraplegia 20, autosomal recessive to Troyer syndrome, OMIM:275900; Spastic paraplegia 20
Publications for gene: SPART were set to
Source Yorkshire and North East GLH was added to SPART.
Source Expert Review Green was added to SPART. Mode of inheritance for gene SPART was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Troyer syndrome; Spastic paraplegia 20, autosomal recessive for gene: SPART Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SPART.
gene: SPART was added gene: SPART was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPART was set to