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Hereditary ataxia with onset in adulthood v8.16 SPG7 Ida Ertmanska Tag digenic tag was added to gene: SPG7.
Tag Q1_26_MOI tag was added to gene: SPG7.
Tag Q1_26_NHS_review tag was added to gene: SPG7.
Hereditary ataxia with onset in adulthood v8.16 SPG7 Ida Ertmanska Publications for gene: SPG7 were set to 25681447; 9635427; 16534102; 17646629; 18200586; 20186691; 22571692
Hereditary ataxia with onset in adulthood v8.15 SPG7 Ida Ertmanska reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22964162, 23065789, 24727571, 26506339, 31068484, 31854126, 32548275, 33598982, 33774748, 34405107, 39978794; Phenotypes: Spastic paraplegia 7, autosomal recessive, OMIM:607259, hereditary spastic paraplegia 7, MONDO:0011803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v8.15 SPG7 Lauren Turton reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v4.24 SPG7 Sarah Leigh Tag Q2_23_MOI was removed from gene: SPG7.
Hereditary ataxia with onset in adulthood v4.24 SPG7 Sarah Leigh commented on gene: SPG7: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v4.23 SPG7 Sarah Leigh Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v4.8 SPG7 Sarah Leigh reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v4.8 SPG7 Sarah Leigh Publications for gene: SPG7 were set to 25681447
Hereditary ataxia with onset in adulthood v4.7 SPG7 Sarah Leigh Tag Q2_23_MOI tag was added to gene: SPG7.
Hereditary ataxia with onset in adulthood v4.7 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Autosomal recessive spastic paraplegia 7, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Hereditary ataxia with onset in adulthood v1.14 SPG7 Louise Daugherty commented on gene: SPG7: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 SPG7 Louise Daugherty Source London North GMS was added to SPG7.
Hereditary ataxia with onset in adulthood v1.11 SPG7 James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 SPG7 Louise Daugherty Added phenotypes Autosomal recessive spastic paraplegia 7, 607259 for gene: SPG7
Hereditary ataxia with onset in adulthood v1.8 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 SPG7 Tracy Lester reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 7, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Hereditary ataxia with onset in adulthood v1.1 SPG7 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG7.
Hereditary ataxia with onset in adulthood v0.2 SPG7 Eleanor Williams gene: SPG7 was added
gene: SPG7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 25681447
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia