Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Adult onset hereditary spastic paraplegia
Gene: MAG

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoting from Amber to Red as onset is in early childhood
Created: 27 Feb 2023, 4:03 p.m. | Last Modified: 27 Feb 2023, 4:03 p.m.

Panel Version: 2.14

Created: 27 Feb 2023, 4:03 p.m.
Last Modified: 27 Feb 2023, 4:03 p.m.
Panel version: 2.14

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

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

Created: 10 May 2019, 7:26 a.m.

Panel version: 0.53

Chris Buxton (North Bristol NHS Trust)

I don't know

limited evidence. See current PA review status
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 75, autosomal recessive, 616680

Publications

Created: 27 Apr 2019, 4:17 p.m.

Panel version: 0.29

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 25 Apr 2019, 1:37 p.m.

Panel version: 0.148

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Victoria: spastic paraplegia and cognitive impairment in childhood. 2 cases published in literature with spastic paraplegia. In sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 75, autosomal recessive, 616680

Created: 25 Apr 2019, 1:22 p.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Yorkshire and North East GLH
South West GLH
NHS GMS
London North GLH

Phenotypes

Spastic paraplegia 75, autosomal recessive, OMIM:616680

OMIM

159460

Clinvar variants

Variants in MAG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Feb 2023, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MAG were set to 26179919; 24482476

27 Feb 2023, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mag has been classified as Red List (Low Evidence).

27 Feb 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

21 May 2019, Gel status: 2