Structural basal ganglia disorders
Gene: IFIH1
IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 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)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Aicardi-Goutieres syndrome 7, OMIM:615846
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Inherited white matter disorders
- COVID-19 research
- Structural eye disease
History Filter Activity
24 Nov 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 615846 to Aicardi-Goutieres syndrome 7, OMIM:615846
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