| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Spastic Paraplegia v2.37 | BORCS8 | Bryony Thompson Marked gene: BORCS8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.37 | BORCS8 | Bryony Thompson Gene: borcs8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.37 | BORCS8 | Bryony Thompson Classified gene: BORCS8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.37 | BORCS8 | Bryony Thompson Gene: borcs8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.36 | BORCS8 |
Bryony Thompson gene: BORCS8 was added gene: BORCS8 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MONDO:0975837 Review for gene: BORCS8 was set to AMBER Added comment: PMID 38128568 reports 4 individuals from 2 unrelated families with biallelic BORCS8 loss-of-function variants presenting with early‑infantile neurodevelopmental disorder characterised by global developmental delay, profound intellectual disability, hypotonia, limb spasticity, optic atrophy, hypomyelination and progressive neurodegeneration. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||