Childhood onset hereditary spastic paraplegia
Gene: KLC2Comment 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.Created: 27 Feb 2023, 3:13 p.m. | Last Modified: 27 Feb 2023, 3:13 p.m.
Panel Version: 3.15
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 listCreated: 19 Sep 2020, 7:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541
Variants in this GENE are reported as part of current diagnostic practice
Gene: klc2 has been classified as Red List (Low Evidence).
Phenotypes for gene: KLC2 were changed from Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 to Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541
Publications for gene: KLC2 were set to
Tag currently-ngs-unreportable tag was added to gene: KLC2.
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