Childhood onset hereditary spastic paraplegia
Gene: KLC2EnsemblGeneIds (GRCh38): ENSG00000174996
EnsemblGeneIds (GRCh37): ENSG00000174996
OMIM: 611729, Gene2Phenotype
KLC2 is in 3 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
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.Created: 27 Feb 2023, 3:13 p.m. | Last Modified: 27 Feb 2023, 3:13 p.m.
Panel Version: 3.15
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541
- Tags
- OMIM
- 611729
- Clinvar variants
- Variants in KLC2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: klc2 has been classified as Red List (Low Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KLC2 were changed from Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 to Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: KLC2 were set to
Added Tag
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable tag was added to gene: KLC2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)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