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| Childhood onset hereditary spastic paraplegia v1.80 | PCDH12 | Louise Daugherty Publications for gene: PCDH12 were set to 27164683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.76 | PCDH12 | Louise Daugherty Source NHS GMS was added to PCDH12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.75 | PCDH12 | Louise Daugherty Source Yorkshire and North East GLH was added to PCDH12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.74 | PCDH12 | Nick Beauchamp reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 27164683, 29556033; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.3 | PCDH12 | Louise Daugherty Added phenotypes microcephaly; perithalamic hyperechogenicity; midbrain abnormalities; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.6 | PCDH12 |
Sarah Leigh gene: PCDH12 was added gene: PCDH12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683 Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity |
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