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| Adult onset neurodegenerative disorder v2.127 | SPG11 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: early onset parkinsonism, levo dopa responsve;Spastic paraplegia 11, autosomal recessive;Complex parkinsonism;hereditary spastic paraparesis;Early Onset Complex Disease |
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| Adult onset neurodegenerative disorder v2.127 | SPG11 | Ivone Leong Phenotypes for gene: SPG11 were changed from early onset parkinsonism, levo dopa responsve; Spastic paraplegia 11, autosomal recessive; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease to early onset parkinsonism, levo dopa responsve; Spastic paraplegia 11, autosomal recessive, OMIM:604360; Complex parkinsonism; hereditary spastic paraparesis; Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.101 | SPG11 | Louise Daugherty commented on gene: SPG11: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.100 | SPG11 | Louise Daugherty Source Wessex and West Midlands GLH was added to SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.99 | SPG11 | Tracy Lester reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.81 | SPG11 | Louise Daugherty Publications for gene SPG11 were changed from 19224311; 27820618; Stevanin et al. (2007); 21381113 to 21381113; 22554690; 19224311; 18067136; 27820618) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | SPG11 | Louise Daugherty commented on gene: SPG11: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | SPG11 | Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 18067136, 22554690; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | SPG11 | Louise Daugherty Source Yorkshire and North East GLH was added to SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.11 | SPG11 | Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.10 | SPG11 | James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.9 | SPG11 | Louise Daugherty Source NHS GMS was added to SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.8 | SPG11 | Louise Daugherty Source London North GLH was added to SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | SPG11 | Rebecca Foulger Added phenotypes early onset parkinsonism, levo dopa responsve; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease for gene: SPG11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | SPG11 |
Rebecca Foulger gene: SPG11 was added gene: SPG11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 19224311; 27820618; Stevanin et al. (2007); 21381113 Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive |
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