| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.119 | MPZ | Bryony Thompson Marked gene: MPZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.119 | MPZ | Bryony Thompson Gene: mpz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.119 | MPZ | Bryony Thompson Classified gene: MPZ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.119 | MPZ | Bryony Thompson Gene: mpz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.118 | MPZ |
Bryony Thompson gene: MPZ was added gene: MPZ was added to Ataxia. Sources: Literature Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MPZ were set to 33960567 Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease type 1B, MONDO:0007307 Review for gene: MPZ was set to GREEN Added comment: PMID 33960567 reports 6 individuals from 6 families with heterozygous truncating MPZ variants presenting with adult-onset sensory ataxia, mild weakness and demyelinating neuropathy (CMT1B); four variants arose de novo and the recurrent p.Asp104fs variant was observed in multiple families. MPZ is relevant to the Ataxia panel because sensory ataxia is a core feature of the disorder. Sources: Literature |
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