| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.97 | NOTCH3 | Bryony Thompson Marked gene: NOTCH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.97 | NOTCH3 | Bryony Thompson Gene: notch3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.97 | NOTCH3 | Bryony Thompson Classified gene: NOTCH3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.97 | NOTCH3 | Bryony Thompson Gene: notch3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.96 | NOTCH3 |
Bryony Thompson gene: NOTCH3 was added gene: NOTCH3 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: NOTCH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOTCH3 were set to 41196431; 39191170 Disease associations for gene: NOTCH3 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: NOTCH3 was set to GREEN Added comment: ~76% of cases with biallelic loss-of-function NOTCH3 variants presenting with early-onset spastic tetraparesis, developmental delay, epilepsy and leukoencephalopathy; the recessive neurodevelopmental disorder with prominent spasticity aligns with the hereditary spastic paraplegia panel. Sources: Literature |
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