Adult onset neurodegenerative disorder
Gene: MAGEnsemblGeneIds (GRCh38): ENSG00000105695
EnsemblGeneIds (GRCh37): ENSG00000105695
OMIM: 159460, Gene2Phenotype
MAG is in 8 panels
5 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood - redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 75, autosomal recessive, 616680
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Onset in early childhoodCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 75, autosomal recessive, 616680
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Anthony Dallosso (Bristol Genetics Laboratory)
Recent review by CS (27/11/18), awaiting further reports.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 75, autosomal recessive, 616680
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- London North GLH
- NHS GMS
- South West 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
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist was removed from gene: MAG.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MAG were set to 24482476; 26179919
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
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to MAG. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to MAG.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to MAG.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to MAG.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MAG.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to MAG.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Added Tag
Rebecca Foulger (Genomics England curator)Tag watchlist tag was added to gene: MAG.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: MAG was added gene: MAG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 24482476; 26179919 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680