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| Adult onset hereditary spastic paraplegia v1.95 | SLC25A15 | Ivone Leong Tag Q3_21_rating was removed from gene: SLC25A15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.95 | SLC25A15 | Sarah Leigh commented on gene: SLC25A15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.94 | SLC25A15 |
Ivone Leong Source Expert Review Green was added to SLC25A15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v1.68 | SLC25A15 | Arina Puzriakova Classified gene: SLC25A15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.68 | SLC25A15 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. Spasticity can be a predominant presenting feature, and inclusion on the adult onset panel would ensure later onset, as well as edge cases are identified. SLC25A15 should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.68 | SLC25A15 | Arina Puzriakova Gene: slc25a15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.67 | SLC25A15 | Arina Puzriakova Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.66 | SLC25A15 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: SLC25A15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.66 | SLC25A15 | Arina Puzriakova reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11355015, 16376511, 18978333, 22465082, 33314525; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.66 | SLC25A15 | Arina Puzriakova Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.7 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010 Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Review for gene: SLC25A15 was set to GREEN Added comment: At least four unrelated cases reported with an adult onset spastic paraparesis as a feature of the condition. Sources: Expert list |
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