Adult onset leukodystrophy
Gene: KIF5A
Would make amber. It causes HSP, but I don't know of this gene causing white matter disorderCreated: 13 Sep 2019, 4:20 p.m. | Last Modified: 13 Sep 2019, 4:20 p.m.
Panel Version: 0.19
PMID: 25527826Created: 24 Jul 2019, 2:49 p.m. | Last Modified: 24 Jul 2019, 2:49 p.m.
Panel Version: 0.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditaryspastic paraplegia
Comment on list classification: Downgraded gene from Green to Amber from expert review David Lynch. This approach was also agreed in principle with the Genomic England clinical team (25th November 2019), the change will be flagged up in the sign-off email to the test group for this panel.Created: 26 Nov 2019, 1:16 p.m. | Last Modified: 26 Nov 2019, 1:16 p.m.
Panel Version: 0.22
Red review to flag up for further discussion with GMS Neurology Specialist Test Group due to review from David LynchCreated: 13 Sep 2019, 4:56 p.m. | Last Modified: 13 Sep 2019, 4:56 p.m.
Panel Version: 0.21
Review and Green rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 13 Sep 2019, 4:56 p.m.
Panel Version: 0.21
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KIF5A were changed from Hereditaryspastic paraplegia to Hereditary spastic paraplegia
Gene: kif5a has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hereditaryspastic paraplegia for gene: KIF5A
Publications for gene KIF5A were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to KIF5A. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to KIF5A.
gene: KIF5A was added gene: KIF5A was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: KIF5A was set to