Regression
Gene: IFIH1EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gain-of-function variants in this gene cause AGS, some affected individuals experience episodic neurological regression
Sources: Expert ReviewCreated: 24 Nov 2019, 6:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome 7, MIM#615846
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Aicardi-Goutieres syndrome 7, MIM#615846
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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).
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, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IFIH1 was added gene: IFIH1 was added to Regression_VCGS. Sources: Expert Review Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFIH1 were set to 24686847 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM#615846 Mode of pathogenicity for gene: IFIH1 was set to Other Review for gene: IFIH1 was set to GREEN