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Hereditary spastic paraplegia v1.302 MAG Arina Puzriakova Classified gene: MAG as Green List (high evidence)
Hereditary spastic paraplegia v1.302 MAG Arina Puzriakova Gene: mag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.301 MAG Arina Puzriakova Publications for gene: MAG were set to 24482476; 26179919
Hereditary spastic paraplegia v1.300 MAG Arina Puzriakova Classified gene: MAG as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.300 MAG Arina Puzriakova Added comment: 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.
Hereditary spastic paraplegia v1.300 MAG Arina Puzriakova Gene: mag has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.299 MAG Arina Puzriakova Tag watchlist was removed from gene: MAG.
Hereditary spastic paraplegia v1.299 MAG Arina Puzriakova Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680
Hereditary spastic paraplegia v1.203 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger commented on gene: MAG: Added watchlist tag.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Tag watchlist tag was added to gene: MAG.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Classified gene: MAG as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Added comment: 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.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Gene: mag has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger commented on gene: MAG: 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).
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger commented on gene: MAG
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger Phenotypes for gene: MAG were changed from spastic paprplegia to Spastic paraplegia 75, autosomal recessive, 616680
Hereditary spastic paraplegia v1.115 MAG Rebecca Foulger Publications for gene: MAG were set to
Hereditary spastic paraplegia v1.71 MAG Chris Buxton edited their review of gene: MAG: Changed publications: 24482476
Hereditary spastic paraplegia v1.71 MAG Chris Buxton gene: MAG was added
gene: MAG was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAG were set to spastic paprplegia
Penetrance for gene: MAG were set to unknown
Review for gene: MAG was set to RED
Added comment: 1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence
Diagnostic on Sheffield HSP panel
Sources: Literature