| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.43 | CLCN2 | Bryony Thompson Marked gene: CLCN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.43 | CLCN2 | Bryony Thompson Gene: clcn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.43 | CLCN2 | Bryony Thompson Classified gene: CLCN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.43 | CLCN2 | Bryony Thompson Gene: clcn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.42 | CLCN2 |
Bryony Thompson gene: CLCN2 was added gene: CLCN2 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN2 were set to 40199115; 38173802 Phenotypes for gene: CLCN2 were set to leukoencephalopathy with mild cerebellar ataxia and white matter edema, MONDO:0014292 Review for gene: CLCN2 was set to GREEN Added comment: At least 5 individuals with spasticity as part of the phenotype, including 1 case with pure HSP. Sources: Literature |
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