Structural basal ganglia disorders
Gene: IFIH1Comment from Ellie McDonagh for this gene on the Inherited white matter disorders panel: 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: 6 Mar 2017, 10:53 a.m.
Comment from the Inherited white matter disorders panel: 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: 6 Mar 2017, 10:52 a.m.
Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 615846 to Aicardi-Goutieres syndrome 7, OMIM:615846
promoted 16/03/2017
This gene has been classified as Green List (High Evidence).
IFIH1 was added to Structural basal ganglia disorderspanel. Sources: UKGTN
IFIH1 was created by sleigh