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| Childhood onset hereditary spastic paraplegia v3.15 | KLC2 | Arina Puzriakova Classified gene: KLC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.15 | KLC2 | Arina Puzriakova Added comment: Comment on list classification: Rating Red as this would not currently be picked up by the pipeline but will make a note in our internal log of additional entities to investigate methods of incorporating this variants in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.15 | KLC2 | Arina Puzriakova Gene: klc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.14 | KLC2 | Arina Puzriakova Phenotypes for gene: KLC2 were changed from Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 to Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.13 | KLC2 | Arina Puzriakova Publications for gene: KLC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.12 | KLC2 | Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: KLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.15 | KLC2 |
Zornitza Stark gene: KLC2 was added gene: KLC2 was added to Hereditary spastic paraplegia - childhood onset. 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 GREEN gene: KLC2 was marked as current diagnostic Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Gene is associated with disease, however deletion may not be tractable by all testing methods and/or this association may be better defined as a CNV. Sources: Expert list |
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