| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - adult onset v0.2 | BICD2 | Bryony Thompson Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.2 | BICD2 | Bryony Thompson Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.2 | BICD2 | Bryony Thompson Classified gene: BICD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.2 | BICD2 | Bryony Thompson Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.1 | BICD2 |
Bryony Thompson gene: BICD2 was added gene: BICD2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BICD2 were set to 23664120; 25497877; 24482476 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 Review for gene: BICD2 was set to AMBER Added comment: One family reported with a heterozygous missense in an adult-onset ADHSP family (PMID: 23664120, 25497877), and one homozygous missense in an early-onset HSP family (PMID: 24482476). Sources: Expert list |
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