Adult onset hereditary spastic paraplegia
Gene: ARG1The 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.
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: 16 Aug 2021, 3:23 p.m. | Last Modified: 16 Aug 2021, 3:23 p.m.
Panel Version: 1.33
Childhood onset.Created: 20 Sep 2020, 7:57 a.m. | Last Modified: 20 Sep 2020, 7:57 a.m.
Panel Version: 1.7
Childhood onset. Spastic tetraplegia is a feature of Argininemia.Created: 3 May 2019, 4:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Sufficient publications. In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininaemia, 207800; Progressive spastic tetraplegia
Tag Q3_21_phenotype was removed from gene: ARG1.
Source Expert Review Amber was added to ARG1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_phenotype tag was added to gene: ARG1.
Publications for gene: ARG1 were set to
Source Yorkshire and North East GLH was added to ARG1.
Source Expert Review Green was added to ARG1. Mode of inheritance for gene ARG1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to ARG1.
gene: ARG1 was added gene: ARG1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ARG1 was set to