This Panel is marked as Internal
Dystonia - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 7 615846
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Intellectual disability
- Inherited white matter disorders
- Skeletal dysplasia
- Structural eye disease
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: IFIH1 was added gene: IFIH1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 615846