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| Childhood onset hereditary spastic paraplegia v2.130 | IFIH1 | Ivone Leong Tag Q4_21_rating was removed from gene: IFIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.130 | IFIH1 | Sarah Leigh commented on gene: IFIH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.129 | IFIH1 |
Ivone Leong Source Expert Review Green was added to IFIH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v2.115 | IFIH1 | Arina Puzriakova Tag Q4_21_rating tag was added to gene: IFIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.115 | IFIH1 | Arina Puzriakova Classified gene: IFIH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.115 | IFIH1 |
Arina Puzriakova Added comment: Comment on list classification: Spasticity can be a prominent feature of Aicardi-Goutières syndrome (OMIM:615846) and has been reported as an early presenting sign in some cases. There has also been a case of spastic paraplegia without other common manifestations such as abnormal brain imaging and impaired cognitive development. Overall there is value in including IFIH1 on this panel and therefore this gene should be promoted to Green at the next GMS panel update. |
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| Childhood onset hereditary spastic paraplegia v2.115 | IFIH1 | Arina Puzriakova Gene: ifih1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.114 | IFIH1 | Arina Puzriakova Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 MIM#615846 to Aicardi-Goutieres syndrome 7, OMIM:615846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.15 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFIH1 were set to 25243380; 31427910; 24686847; 24995871 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 MIM#615846 Review for gene: IFIH1 was set to GREEN Added comment: At least four cases reported with spastic paraparesis as a feature of the condition. Sources: Expert list |
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