Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.113 | PCDH12 | Louise Daugherty Publications for gene: PCDH12 were set to 27164683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.112 | PCDH12 | Louise Daugherty Mode of inheritance for gene: PCDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.55 | PCDH12 | Louise Daugherty Source NHS GMS was added to PCDH12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | PCDH12 | Louise Daugherty Source Yorkshire and North East GLH was added to PCDH12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | PCDH12 | Nick Beauchamp reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 27164683, 29556033; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.42 | PCDH12 | Louise Daugherty reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.30 | PCDH12 |
Louise Daugherty Added phenotypes microcephaly; midbrain abnormalities; perithalamic hyperechogenicity; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12 Publications for gene PCDH12 were changed from to 27164683 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.29 | PCDH12 | Chris Buxton reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: ; Publications: 27164683; Phenotypes: intellectual disability, microcephaly, epilepsy, perithalamic hyperechogenicity, periventricular hyperechogenicity, midbrain abnormalities, hypothalamic abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.28 | PCDH12 |
Louise Daugherty gene: PCDH12 was added gene: PCDH12 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: PCDH12 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||