Childhood onset hereditary spastic paraplegia
Gene: IFIH1The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130
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.Created: 24 Nov 2021, 1:37 p.m. | Last Modified: 24 Nov 2021, 1:37 p.m.
Panel Version: 2.115
At least four cases reported with spastic paraparesis as a feature of the condition.
Sources: Expert listCreated: 19 Sep 2020, 7:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome 7 MIM#615846
Publications
Tag Q4_21_rating was removed from gene: IFIH1.
Source Expert Review Green was added to IFIH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: IFIH1.
Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 MIM#615846 to Aicardi-Goutieres syndrome 7, OMIM:615846
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