| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.433 | KIF5A | Zornitza Stark Marked gene: KIF5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.433 | KIF5A | Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.433 | KIF5A | Zornitza Stark Classified gene: KIF5A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.433 | KIF5A | Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.432 | KIF5A | Zornitza Stark Classified gene: KIF5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.432 | KIF5A | Zornitza Stark Gene: kif5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.309 | KIF5A |
Bryony Thompson gene: KIF5A was added gene: KIF5A was added to Mitochondrial disease. Sources: NHS GMS 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 Mode of pathogenicity for gene: KIF5A was set to Other Review for gene: KIF5A was set to AMBER Added comment: Three unrelated cases with de novo heterozygous predicted stop-loss variants with read-through of the normal termination codon to create an elongated protein and predicted to be dominant-negative. One of the cases was diagnosed with complex IV deficiency based on a high suspicion of mitochondrial disease given the clinical presentation and borderline findings on electron transport chain studies. There is no evidence that heterozygous variants associated with spastic paraplegia are linked to mitochondrial dysfunction. Sources: NHS GMS |
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