| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.111 | PRUNE1 | Bryony Thompson Marked gene: PRUNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.111 | PRUNE1 | Bryony Thompson Gene: prune1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.111 | PRUNE1 | Bryony Thompson Classified gene: PRUNE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.111 | PRUNE1 | Bryony Thompson Gene: prune1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.110 | PRUNE1 |
Bryony Thompson gene: PRUNE1 was added gene: PRUNE1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRUNE1 were set to 40110277; 35379233; 35194938; 34111303; 32134588; 32134588; 30556349; 29797509; 29372174 Disease associations for gene: PRUNE1 were set to Neurodevelopmental disorder, MONDO:0700092; neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490 Review for gene: PRUNE1 was set to GREEN Added comment: PRUNE1 loss‑of‑function and recurrent missense variants cause a neurodevelopmental disorder with microcephaly, hypotonia, spastic quadriparesis, seizures and variable brain anomalies (NMIHBA). The same gene also underlies a recessive hereditary spastic paraplegia phenotype with microcephaly, seizures, developmental delay and hyper‑CKemia in a single Turkish family. Sources: Literature |
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