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Ataxia - paediatric v1.33 SPTAN1 Bryony Thompson Marked gene: SPTAN1 as ready
Ataxia - paediatric v1.33 SPTAN1 Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.33 SPTAN1 Bryony Thompson Classified gene: SPTAN1 as Green List (high evidence)
Ataxia - paediatric v1.33 SPTAN1 Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.32 SPTAN1 Bryony Thompson gene: SPTAN1 was added
gene: SPTAN1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 36331550
Phenotypes for gene: SPTAN1 were set to Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
Mode of pathogenicity for gene: SPTAN1 was set to Other
Review for gene: SPTAN1 was set to GREEN
gene: SPTAN1 was marked as current diagnostic
Added comment: 15/31 individuals from 26 unrelated families carrying heterozygous variants in SPTAN1 manifested ataxia, usually with HSP. There were 2 patients with pure ataxia. Suggested that the mechanism of disease for these heterozygous variants was suspected to be dominant negative. Variable age of onset from paediatric to adult onset.
Sources: Literature