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| Dystonia - complex v0.132 | SURF1 | Zornitza Stark Marked gene: SURF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.132 | SURF1 | Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.132 | SURF1 | Zornitza Stark Classified gene: SURF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.132 | SURF1 | Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.131 | SURF1 |
Zornitza Stark gene: SURF1 was added gene: SURF1 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SURF1 were set to 19780766 Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, MIM# 256000 Review for gene: SURF1 was set to GREEN Added comment: SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a progressive neurodegenerative disorder of infancy, characterised by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia. Dystonia is part of the phenotype, particularly in those with milder phenotypes/missense variants. Sources: Expert list |
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