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| Hereditary spastic paraplegia v1.169 | KLC4 | Rebecca Foulger Classified gene: KLC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.169 | KLC4 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red. Gene was added to panel and rated Red by Chris Buxton (Bristol NHS). As the reviewer notes, there is currently 1 family from 1 paper (PMID:26423925). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.169 | KLC4 | Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.168 | KLC4 | Rebecca Foulger commented on gene: KLC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.168 | KLC4 | Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.138 | KLC4 | Sarah Leigh Classified gene: KLC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.138 | KLC4 | Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.138 | KLC4 | Sarah Leigh Gene: klc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.71 | KLC4 |
Chris Buxton gene: KLC4 was added gene: KLC4 was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLC4 were set to 26423925 Phenotypes for gene: KLC4 were set to spastic paraplegia Penetrance for gene: KLC4 were set to Complete Review for gene: KLC4 was set to RED Added comment: Bayrakli (2015, 26423925). Affected, homozygous fs in three individuals in the same family. One family, limited evidence Diagnostic on Sheffield HSP panel Sources: Literature |
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