| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.85 | KLC1 | Bryony Thompson Marked gene: KLC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.85 | KLC1 | Bryony Thompson Gene: klc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.85 | KLC1 | Bryony Thompson Classified gene: KLC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.85 | KLC1 | Bryony Thompson Gene: klc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.84 | KLC1 |
Bryony Thompson gene: KLC1 was added gene: KLC1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: KLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLC1 were set to 42372486 Phenotypes for gene: KLC1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: KLC1 was set to GREEN Added comment: PMID 42372486 reports 7 individuals from 7 families with heterozygous de novo KLC1 missense variants; three families display infantile‑onset dystonic‑spastic cerebral palsy (early‑onset dystonia, lower‑limb spasticity, developmental delay), a dominant‑negative motor disorder that aligns with the Hereditary Spastic Paraplegia panel’s focus on spasticity and neurodevelopmental phenotypes. Sources: Literature |
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