Leukodystrophy - paediatric
Gene: IFIH1EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Leukodystrophy is a feature of AGS (gene reviews).
GoF have been proven for these variants.Created: 15 Nov 2021, 12:51 a.m. | Last Modified: 15 Nov 2021, 12:51 a.m.
Panel Version: 0.236
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome 7 MIM#615846
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Aicardi-Goutieres syndrome 7 MIM#615846
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- 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 General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7 to Aicardi-Goutieres syndrome 7 MIM#615846
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: IFIH1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: IFIH1 was added gene: IFIH1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IFIH1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7