1. Panels
  2. Intellectual disability
  3. MAG
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: MAG

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39336794 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 11 Mar 2025, 12:55 p.m. | Last Modified: 11 Mar 2025, 12:55 p.m.
Panel Version: 8.124
AT least six MAG variants have been associated with Spastic paraplegia 75, autosomal recessive, OMIM:616680 in at least five unrelated cases (PMID: 24482476; 26179919; 27606346; 31402626; 39336794). It would appear that intellectual disability is a common feature in cases of OMIM:616680, although this may be mild to moderate.
Sources: Literature
Created: 11 Mar 2025, 12:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 75, autosomal recessive, OMIM:616680; hereditary spastic paraplegia 75, MONDO:0014729

Publications

Created: 11 Mar 2025, 12:48 p.m.

Panel version: 8.122

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, OMIM:616680
  • hereditary spastic paraplegia 75, MONDO:0014729
Tags
Q1_25_ promote_green
OMIM
159460
Clinvar variants
Variants in MAG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MAG were set to 39336794

11 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

11 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: MAG was added gene: MAG was added to Intellectual disability. Sources: Literature Q1_25_ promote_green tags were added to gene: MAG. Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 39336794 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, OMIM:616680; hereditary spastic paraplegia 75, MONDO:0014729 Review for gene: MAG was set to GREEN