Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adult onset hereditary spastic paraplegia v1.95 | FBXO7 | Ivone Leong Tag Q3_21_rating was removed from gene: FBXO7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.95 | FBXO7 | Sarah Leigh commented on gene: FBXO7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.94 | FBXO7 |
Ivone Leong Source Expert Review Green was added to FBXO7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.38 | FBXO7 | Arina Puzriakova Classified gene: FBXO7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.38 | FBXO7 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update (tagged) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.38 | FBXO7 | Arina Puzriakova Gene: fbxo7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.37 | FBXO7 | Arina Puzriakova Phenotypes for gene: FBXO7 were changed from Parkinson disease 15, autosomal recessive MIM#260300 to Parkinson disease 15, autosomal recessive, OMIM:260300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.36 | FBXO7 | Arina Puzriakova Publications for gene: FBXO7 were set to 18513678; 19038853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.35 | FBXO7 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: FBXO7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.35 | FBXO7 | Arina Puzriakova reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19038853, 18513678, 26882974, 34144229; Phenotypes: Parkinson disease 15, autosomal recessive, OMIM:260300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.7 | FBXO7 |
Zornitza Stark gene: FBXO7 was added gene: FBXO7 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXO7 were set to 18513678; 19038853 Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive MIM#260300 Review for gene: FBXO7 was set to GREEN gene: FBXO7 was marked as current diagnostic Added comment: Lower limb spasticity reported in at least three families. Sources: Expert list |