| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.17 | ACTL6B | Bryony Thompson Marked gene: ACTL6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.17 | ACTL6B | Bryony Thompson Gene: actl6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.17 | ACTL6B | Bryony Thompson Classified gene: ACTL6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.17 | ACTL6B | Bryony Thompson Gene: actl6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.16 | ACTL6B |
Bryony Thompson gene: ACTL6B was added gene: ACTL6B was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTL6B were set to 31031012 Phenotypes for gene: ACTL6B were set to developmental and epileptic encephalopathy, 76, MONDO:0032768 Review for gene: ACTL6B was set to GREEN Added comment: PMID 31031012 reports 10 individuals from 10 families (9 independent) with biallelic loss-of-function ACTL6B variants presenting with a severe neurodevelopmental disorder characterised by global developmental delay, epileptic encephalopathy and early‑onset spasticity. Patient‑derived neuronal models and CRISPR ACTL6B knockout recapitulate dendritic loss rescued by wild‑type ACTL6B, providing strong functional validation. Sources: Literature |
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