Hereditary spastic paraplegia
Gene: MAGComment on list classification: Promoted from Amber to Green and removed watchlist tag as there are now at least 12 individuals from 8 families with biallelic variants in this gene. Clinical features are characterised by spasticity (9/13), neuropathy (8/13), optic atrophy (7/13), variable cognitive deficits (7/13), and cerebellar signs (10/13) including ataxia in some (8/13) although 3/10 showed normal brain MRI results.Created: 27 Feb 2023, 4:02 p.m. | Last Modified: 27 Feb 2023, 4:02 p.m.
Panel Version: 1.300
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 8:37 a.m.
Added watchlist tag.Created: 18 Dec 2018, 9:03 a.m.
Comment on list classification: Updated rating from Grey to Amber: Gene added and rated red by Chris Buxton (Bristol NHS) based on 1 family in PMID:24482476. One additional family reported in PMID:26179919 but require at least one further case for diagnostic rating.Created: 18 Dec 2018, 9:02 a.m.
In 3 siblings with AR spastic paraplegia born of consanguineous Palestinian parents, Lossos et al. (2015, PMID:26179919) identified a homozygous c.399C-G transversion in the MAG gene (S133R).Created: 18 Dec 2018, 9:01 a.m.
PMID:24482476 (Novarino et al 2014) identified MAG as a HSP candidate gene based on the HSPome (network analysis). In 2 affected sisters from a consanguineous family (family 1226) with AR spastic paraplegia-75, PMID:24482476 identified homozygosity for a c.1288T-G transversion in the MAG gene (C430G).Created: 18 Dec 2018, 9:01 a.m.
1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence
Diagnostic on Sheffield HSP panel
Sources: LiteratureCreated: 27 Nov 2018, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paprplegia
Publications
Gene: mag has been classified as Green List (High Evidence).
Publications for gene: MAG were set to 24482476; 26179919
Gene: mag has been classified as Amber List (Moderate Evidence).
Tag watchlist was removed from gene: MAG.
Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680
Tag watchlist tag was added to gene: MAG.
Gene: mag has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MAG were changed from spastic paprplegia to Spastic paraplegia 75, autosomal recessive, 616680
Publications for gene: MAG were set to
gene: MAG was added gene: MAG was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAG were set to spastic paprplegia Penetrance for gene: MAG were set to unknown Review for gene: MAG was set to RED