Adult onset hereditary spastic paraplegia
Gene: MAGComment on list classification: Demoting from Amber to Red as onset is in early childhoodCreated: 27 Feb 2023, 4:03 p.m. | Last Modified: 27 Feb 2023, 4:03 p.m.
Panel Version: 2.14
Two families reported currently. Childhood onset. No additional patients identified using Sheffield panel.Created: 10 May 2019, 7:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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). Amber 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.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
Victoria: spastic paraplegia and cognitive impairment in childhood. 2 cases published in literature with spastic paraplegia. In sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 75, autosomal recessive, 616680
Publications for gene: MAG were set to 26179919; 24482476
Gene: mag has been classified as Red List (Low Evidence).
Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680
Source Expert Review Amber was added to MAG. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to MAG.
Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG Publications for gene MAG were changed from to 26179919; 24482476
Source South West GLH was added to MAG.
Source Expert Review Green was added to MAG. Mode of inheritance for gene MAG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to MAG.
gene: MAG was added gene: MAG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: MAG was set to