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  3. MAG
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Ataxia - paediatric

Gene: MAG

Green List (high evidence)
MAG (myelin associated glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000105695
EnsemblGeneIds (GRCh37): ENSG00000105695
OMIM: 159460, Gene2Phenotype
MAG is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four more individuals reported with variable combinations of psychomotor delay, ataxia, eye movement abnormalities, spasticity, dystonia, and neuropathic symptoms.
Created: 11 Oct 2020, 10 a.m. | Last Modified: 11 Oct 2020, 10 a.m.
Panel Version: 0.262
At least 5 families reported where ataxia was a prominent feature.
Sources: Literature
Created: 19 Sep 2020, 7:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 75, autosomal recessive, MIM# 616680; Cerebellar ataxia; Oculomotor apraxia

Publications

Created: 19 Sep 2020, 7:51 a.m.

Panel version: 0.262

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, MIM# 616680
  • Cerebellar ataxia
  • Oculomotor apraxia
OMIM
159460
Clinvar variants
Variants in MAG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAG were set to 32629324; 32340215

19 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mag has been classified as Green List (High Evidence).

19 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mag has been classified as Green List (High Evidence).

19 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAG was added gene: MAG was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 32629324; 32340215 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, MIM# 616680; Cerebellar ataxia; Oculomotor apraxia Review for gene: MAG was set to GREEN