| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary spastic paraplegia v1.196 | EIF2B5 |
Chris Buxton gene: EIF2B5 was added gene: EIF2B5 was added to Hereditary spastic paraplegia. Sources: Expert list Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B5 were set to See OMIM https://www.omim.org/entry/603896 Phenotypes for gene: EIF2B5 were set to progressive cerebellar ataxia; spasticity; cognitive impairment Penetrance for gene: EIF2B5 were set to unknown Mode of pathogenicity for gene: EIF2B5 was set to Other Review for gene: EIF2B5 was set to AMBER gene: EIF2B5 was marked as current diagnostic Added comment: Curerntly diagnostic on Sheffield's HSP panel. Vanishing white matter leukodystrophy: Phenotype could be theoretically interpreted as HSP in an infant? so maybe only consider for Child onset HSP panel. HGMD mostly lists missense variants Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||