| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.39 | CAMTA1 | Bryony Thompson Marked gene: CAMTA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.39 | CAMTA1 | Bryony Thompson Gene: camta1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.39 | CAMTA1 | Bryony Thompson Classified gene: CAMTA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.39 | CAMTA1 | Bryony Thompson Gene: camta1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.38 | CAMTA1 |
Bryony Thompson gene: CAMTA1 was added gene: CAMTA1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMTA1 were set to 32157189; 33131045 Phenotypes for gene: CAMTA1 were set to cerebellar dysfunction with variable cognitive and behavioral abnormalities, MONDO:0013886 Review for gene: CAMTA1 was set to GREEN Added comment: PMID 32157189 reports four individuals from four unrelated families presenting with a spastic ataxia syndrome characterised by lower‑limb spasticity, ataxia and variable neurodevelopmental features. PMID 33131045 reports additional cases Sources: Literature |
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