| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v2.9 | PNPLA6 | Bryony Thompson Marked gene: PNPLA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.9 | PNPLA6 | Bryony Thompson Gene: pnpla6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.9 | PNPLA6 | Bryony Thompson Classified gene: PNPLA6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.9 | PNPLA6 | Bryony Thompson Gene: pnpla6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.8 | PNPLA6 |
Bryony Thompson gene: PNPLA6 was added gene: PNPLA6 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 32623594; 36825042 Phenotypes for gene: PNPLA6 were set to PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 Review for gene: PNPLA6 was set to AMBER Added comment: Parkinsonism is a part of the phenotype in at least 2 families, both compound hets including the same missense variant (PNPLA6 c.4003C>T p.Pro1335Ser). Sources: Literature |
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