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| Hereditary Spastic Paraplegia - paediatric v0.82 | KLC2 | Zornitza Stark Classified gene: KLC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.82 | KLC2 | Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.81 | KLC2 | Zornitza Stark reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.59 | KLC2 | Zornitza Stark Marked gene: KLC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.59 | KLC2 | Zornitza Stark Gene: klc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.4 | KLC2 | Bryony Thompson Tag SV/CNV tag was added to gene: KLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.4 | KLC2 |
Bryony Thompson gene: KLC2 was added gene: KLC2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 Review for gene: KLC2 was set to RED Added comment: A large deletion in the non-coding region segregates with disease and has been identified in >3 cases with SPOAN. This CNV is not detected by whole exome sequencing. Sources: Expert list |
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