| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.97 | LRSAM1 | Bryony Thompson Marked gene: LRSAM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.97 | LRSAM1 | Bryony Thompson Gene: lrsam1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.97 | LRSAM1 | Bryony Thompson Classified gene: LRSAM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.97 | LRSAM1 | Bryony Thompson Gene: lrsam1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.96 | LRSAM1 |
Bryony Thompson gene: LRSAM1 was added gene: LRSAM1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRSAM1 were set to 30996334 Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease axonal type 2P, MONDO:0013753 Review for gene: LRSAM1 was set to GREEN Added comment: PMID 30996334 reports 72 individuals from 8 families (5 independent) with heterozygous in‑frame LRSAM1 variants presenting with adult‑onset sensory ataxia, neuropathic pain and length‑dependent sensory loss. This dominant‑negative mechanism causes Charcot‑Marie‑Tooth disease type 2P, an ataxic neuropathy that falls within the Ataxia panel’s scope of disorders featuring prominent ataxia. Sources: Literature |
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