Hereditary spastic paraplegia

Gene: MAG

Amber List (moderate evidence)

MAG (myelin associated glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000105695
EnsemblGeneIds (GRCh37): ENSG00000105695
OMIM: 159460, Gene2Phenotype
MAG is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 2019
Created: 3 May 2019, 8:37 a.m.

Rebecca Foulger (Genomics England curator)

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.

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence
Diagnostic on Sheffield HSP panel
Sources: Literature
Created: 27 Nov 2018, 1:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic paprplegia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, 616680
Tags
watchlist
OMIM
159460
Clinvar variants
Variants in MAG
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Dec 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: MAG.

18 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: mag has been classified as Amber List (Moderate Evidence).

18 Dec 2018, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MAG were changed from spastic paprplegia to Spastic paraplegia 75, autosomal recessive, 616680

18 Dec 2018, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MAG were set to

27 Nov 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Chris Buxton (North Bristol NHS Trust)

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