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| White matter disorders and cerebral calcification - narrow panel v2.9 | KIF5A | Sarah Leigh Tag Q2_21_rating was removed from gene: KIF5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | KIF5A | Sarah Leigh reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | KIF5A |
Sarah Leigh Source NHS GMS was added to KIF5A. Source Expert Review Green was added to KIF5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.157 | KIF5A | Ivone Leong Tag Q2_21_rating tag was added to gene: KIF5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.157 | KIF5A | Ivone Leong Classified gene: KIF5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.157 | KIF5A | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.157 | KIF5A | Ivone Leong Gene: kif5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.155 | KIF5A | Ivone Leong Phenotypes for gene: KIF5A were changed from Myoclonus, intractable, neonatal, MIM# 617235 to Myoclonus, intractable, neonatal, OMIM:617235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | KIF5A |
Zornitza Stark gene: KIF5A was added gene: KIF5A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 27463701; 27414745 Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal, MIM# 617235 Review for gene: KIF5A was set to GREEN gene: KIF5A was marked as current diagnostic Added comment: Variants in KIF5A cause a range of phenotypes with variable range of onset including spastic paraplegia and neuropathy. Three unrelated families reported with de novo frame-shifts in the C-terminal domain of KIF5A and neonatal intractable myoclonus, a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants had intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging showed a progressive leukoencephalopathy. Sources: Expert list |
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