Structural basal ganglia disorders

Gene: IFIH1

Green List (high evidence)

IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 16 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

IFIH1 was added to Structural basal ganglia disorderspanel. Sources: UKGTN

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IFIH1 was created by sleigh