Cerebral Palsy
Gene: IFIH1EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
1 review
Luisa Weiss (University of Adelaide)
Three large CP cohort publication with one patient each presenting with CP and harbouring a IFIH1 mutation (missense mutations). Note that the gene can have a very variable phenotype and incomplete penetrance has been reported for other diseases associated with mutatons in this gene.
Sources: LiteratureCreated: 7 Jun 2023, 3:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 7 MIM#615846; Immunodeficiency 95 MIM#619773; Singleton-Merten syndrome MIM#182250
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 7 MIM#615846
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Nucleotide metabolism disorders
- Glaucoma congenital
- Defects of intrinsic and innate immunity
- Brain Calcification
- Inflammatory bowel disease
- Autoinflammatory Disorders
- Intellectual disability syndromic and non-syndromic
- Susceptibility to Viral Infections
- Genetic Epilepsy
- Disorders of immune dysregulation
- Regression
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ifih1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 MIM#615846; Immunodeficiency 95 MIM#619773; Singleton-Merten syndrome MIM#182250 to Aicardi-Goutieres syndrome 7 MIM#615846
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ifih1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: IFIH1 was added gene: IFIH1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: IFIH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFIH1 were set to 34788679; 33177673; 33528536 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 MIM#615846; Immunodeficiency 95 MIM#619773; Singleton-Merten syndrome MIM#182250 Review for gene: IFIH1 was set to GREEN