| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.47 | COQ4 | Bryony Thompson Marked gene: COQ4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.47 | COQ4 | Bryony Thompson Gene: coq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.47 | COQ4 | Bryony Thompson Classified gene: COQ4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.47 | COQ4 | Bryony Thompson Gene: coq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.46 | COQ4 |
Bryony Thompson gene: COQ4 was added gene: COQ4 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 42277908; 39776381; 39611533; 39367686; 38013626; 38014483; 36047608; 33704555 Phenotypes for gene: COQ4 were set to Mitochondrial disease, MONDO:0044970 Review for gene: COQ4 was set to GREEN Added comment: Biallelic variants are associated with a spectrum of phenotypes, including predominant HSP to a complex neurological disorder with spasticity as a feature. Sources: Literature |
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