Intracerebral calcification disorders
Gene: IFIH1EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
2 reviews
Yanick Crow (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green, and it is a green gene on the Intellectual disability gene panel (version 1.14) and Inherited white matter disorders gene panel (version 1.0). More than 3 cases/family reports and different variants reported (see publications).
Created: 29 Nov 2016, 1:22 p.m.
Mode of inheritance sourced from G2P.Created: 10 Feb 2016, 5:01 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- UKGTN
- Expert list
- Phenotypes
-
- Aicardi-Goutieres syndrome 7, OMIM:615846
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- White matter disorders and cerebral calcification - narrow panel
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Intracerebral calcification disorders
- Inherited white matter disorders
- COVID-19 research
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7, 615846; Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis to Aicardi-Goutieres syndrome 7, OMIM:615846
Upload gene information
Louise Daugherty (Genomics England Curator)IFIH1 was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IFIH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IFIH1 were set to Aicardi-Goutieres syndrome 7, 615846; Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFIH1 were set to 24686847; 25604658;24995871
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFIH1 were set to 24686847;25604658
Added New Source
Olivia Niblock (Genomics England Curator)IFIH1 was added to Intracerebral calcification disorderspanel. Source: UKGTN
Created
Ellen McDonagh (Genomics England Curator)IFIH1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IFIH1 was added to Intracerebral calcification disorderspanel. Sources: Expert list