Hereditary spastic paraplegia
Gene: MAG

MAG (myelin associated glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000105695
EnsemblGeneIds (GRCh37): ENSG00000105695
OMIM: 159460, Gene2Phenotype
MAG is in 8 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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

Created: 27 Feb 2023, 4:02 p.m.
Last Modified: 27 Feb 2023, 4:02 p.m.
Panel version: 1.300

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.

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

Panel version: 1.203

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.

Created: 18 Dec 2018, 9:01 a.m.

Panel version: 1.117

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

24482476

Created: 27 Nov 2018, 1:41 p.m.

Panel version: 1.71

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Spastic paraplegia 75, autosomal recessive, OMIM:616680

OMIM

159460

Clinvar variants

Variants in MAG

Penetrance

unknown

Publications

Panels with this gene