| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - adult onset v0.8 | DNM2 | Bryony Thompson Marked gene: DNM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.8 | DNM2 | Bryony Thompson Gene: dnm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.8 | DNM2 | Bryony Thompson Classified gene: DNM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.8 | DNM2 | Bryony Thompson Added comment: Comment on list classification: Additional families with HSP required. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.8 | DNM2 | Bryony Thompson Gene: dnm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.7 | DNM2 | Bryony Thompson changed review comment from: A single family segregating a heterozygous missense variant with HSP, and supporting in vitro functional assays.; to: A single family segregating a heterozygous missense variant with HSP, and an in vitro functional assay supporting deleterious effect for the missense variant. Monoallelic variants usually cause Charcot-Marie-Tooth disease and mypoathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.7 | DNM2 | Bryony Thompson edited their review of gene: DNM2: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.7 | DNM2 | Bryony Thompson reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26517984; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | DNM2 |
Bryony Thompson gene: DNM2 was added gene: DNM2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 26517984 Phenotypes for gene: DNM2 were set to Complicated hereditary spastic paraplegia |
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