| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.21 | AFG2B | Bryony Thompson Marked gene: AFG2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.21 | AFG2B | Bryony Thompson Gene: afg2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.21 | AFG2B | Bryony Thompson Classified gene: AFG2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.21 | AFG2B | Bryony Thompson Gene: afg2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.20 | AFG2B |
Bryony Thompson gene: AFG2B was added gene: AFG2B was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: AFG2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AFG2B were set to 41375745; 41375745; 37902276; 34626583; 34626583 Phenotypes for gene: AFG2B were set to neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206 Review for gene: AFG2B was set to GREEN Added comment: Biallelic loss‑of‑function or destabilising missense variants in AFG2B present with sensorineural hearing loss, spastic‑dystonic cerebral palsy, intellectual disability, epilepsy and/or microcephaly. Spasticity is a prominent feature. All families carry at least one qualifying loss‑of‑function or recurrent missense variant. Functional studies include immunofluorescence localisation, protein‑destabilising modelling and patient‑cell RNA‑seq, which support pathogenicity but do not fulfil rescue criteria. Sources: Literature |
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