| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.183 | PLP1 | Bryony Thompson Marked gene: PLP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.183 | PLP1 | Bryony Thompson Gene: plp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.183 | PLP1 | Bryony Thompson Classified gene: PLP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.183 | PLP1 | Bryony Thompson Gene: plp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.182 | PLP1 |
Bryony Thompson gene: PLP1 was added gene: PLP1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PLP1 were set to 39762264; 36622199; 33795668; 33450882; 30637272; 29486744; 29451896; 26786043 Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, connatal form, MONDO:0017221; Pelizaeus-Merzbacher spectrum disorder, MONDO:0010714 Review for gene: PLP1 was set to GREEN Added comment: PLP1 encodes the proteolipid protein 1, a major component of central nervous system myelin. Pathogenic variants cause an X‑linked spectrum of leukodystrophies that commonly present with ataxia, spastic paraplegia and other neurological signs. Sources: Literature |
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