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Childhood onset hereditary spastic paraplegia v4.26 SPG7 Eleanor Williams commented on gene: SPG7
Childhood onset hereditary spastic paraplegia v4.26 SPG7 Eleanor Williams Tag Q2_23_MOI was removed from gene: SPG7.
Childhood onset hereditary spastic paraplegia v4.20 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.
Childhood onset hereditary spastic paraplegia v4.19 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
Childhood onset hereditary spastic paraplegia v4.4 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
Childhood onset hereditary spastic paraplegia v4.4 SPG7 Sarah Leigh Tag Q2_23_MOI tag was added to gene: SPG7.
Childhood onset hereditary spastic paraplegia v4.4 SPG7 Sarah Leigh Publications for gene: SPG7 were set to 9635427
Childhood onset hereditary spastic paraplegia v4.3 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Childhood onset hereditary spastic paraplegia v1.164 SPG7 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 SPG7 Louise Daugherty Source Yorkshire and North East GLH was added to SPG7.
Childhood onset hereditary spastic paraplegia v1.74 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPG7 Louise Daugherty commented on gene: SPG7: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.48 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 SPG7 James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Childhood onset hereditary spastic paraplegia v1.4 SPG7 Louise Daugherty Source London North GLH was added to SPG7.
Childhood onset hereditary spastic paraplegia v1.3 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Childhood onset hereditary spastic paraplegia v1.0 SPG7 Arianna Tucci reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v0.137 SPG7 Louise Daugherty Publications for gene: SPG7 were set to Casari et al (1998)
Childhood onset hereditary spastic paraplegia v0.136 SPG7 Louise Daugherty Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, 607259
Childhood onset hereditary spastic paraplegia v0.6 SPG7 Sarah Leigh gene: SPG7 was added
gene: SPG7 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to Casari et al (1998)
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive