| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset leukodystrophy v0.23 | KIF5A | Louise Daugherty edited their review of gene: KIF5A: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.23 | KIF5A | Louise Daugherty Phenotypes for gene: KIF5A were changed from Hereditaryspastic paraplegia to Hereditary spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.22 | KIF5A | Louise Daugherty Classified gene: KIF5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.22 | KIF5A | Louise Daugherty Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.22 | KIF5A | Louise Daugherty Gene: kif5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.21 | KIF5A | Louise Daugherty changed review comment from: Review and 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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.21 | KIF5A | Louise Daugherty edited their review of gene: KIF5A: Added comment: Red review to flag up for further discussion with GMS Neurology Specialist Test Group due to review from David Lynch; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.19 | KIF5A | David Lynch reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.15 | KIF5A |
Catherine Snow Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hereditaryspastic paraplegia for gene: KIF5A |
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| Adult onset leukodystrophy v0.14 | KIF5A | Catherine Snow reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditaryspastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.10 | KIF5A | Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.9 | KIF5A | Ian Berry reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.8 | KIF5A | Louise Daugherty Publications for gene KIF5A were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.7 | KIF5A |
Louise Daugherty Source Expert Review Green was added to KIF5A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v0.6 | KIF5A | Louise Daugherty Source NHS GMS was added to KIF5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.5 | KIF5A |
Louise Daugherty 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 |
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