Inherited white matter disorders
Gene: IFIH1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. It is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME 7. More than 3 unrelated cases with different variants reported in OMIM, in patients from different ethnicities. It is not on the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951, but the list includes genes associated with Aicardi-Goutieres Syndrome. Green gene in the ID panel version 1.2.Created: 16 Aug 2016, 11:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Aicardi-Goutieres syndrome 7, OMIM:615846
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Publications for IFIH1 were set to
Phenotypes for IFIH1 were set to Aicardi-Goutieres Syndrome;Aicardi-Goutieres syndrome 7;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for IFIH1 were set to 25655951
This gene has been classified as Green List (High Evidence).
IFIH1 was added to Inherited white matter disorderspanel. Sources: Expert list
IFIH1 was created by [email protected]