| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.75 | GEMIN5 | Bryony Thompson Marked gene: GEMIN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.75 | GEMIN5 | Bryony Thompson Gene: gemin5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.75 | GEMIN5 | Bryony Thompson Classified gene: GEMIN5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.75 | GEMIN5 | Bryony Thompson Gene: gemin5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.74 | GEMIN5 |
Bryony Thompson gene: GEMIN5 was added gene: GEMIN5 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN5 were set to 35295849 Phenotypes for gene: GEMIN5 were set to neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MONDO:0859152 Review for gene: GEMIN5 was set to GREEN Added comment: PMID 35295849 reports 9 individuals from 7 families with biallelic GEMIN5 variants presenting with infantile‑ or juvenile‑onset spastic ataxia, cerebellar atrophy and global developmental delay. The pathogenic variants are loss‑of‑function (frameshift, nonsense, splice) and a recurrent missense (p.Arg1016Cys); functional analyses show reduced GEMIN5 protein in patient cells and embryonic‑lethal knockout mice, supporting a loss‑of‑function disease mechanism. Sources: Literature |
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