Intracerebral calcification disorders
Gene: IFIH1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Publications
Comment on list classification: Expert review green, and it is a green gene on the Intellectual disability gene panel (version 1.14) and Inherited white matter disorders gene panel (version 1.0). More than 3 cases/family reports and different variants reported (see publications).
Created: 29 Nov 2016, 1:22 p.m.
Mode of inheritance sourced from G2P.Created: 10 Feb 2016, 5:01 p.m.
Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7, 615846; Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis to Aicardi-Goutieres syndrome 7, OMIM:615846
IFIH1 was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for IFIH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for IFIH1 were set to Aicardi-Goutieres syndrome 7, 615846; Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Publications for IFIH1 were set to 24686847; 25604658;24995871
This gene has been classified as Green List (High Evidence).
Publications for IFIH1 were set to 24686847;25604658
IFIH1 was added to Intracerebral calcification disorderspanel. Source: UKGTN
IFIH1 was created by ellenmcdonagh
IFIH1 was added to Intracerebral calcification disorderspanel. Sources: Expert list