Hereditary Spastic Paraplegia - paediatric
Gene: IFIH1EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least four cases reported with spastic paraparesis as a feature of the condition.Created: 19 Apr 2020, 10:37 a.m. | Last Modified: 19 Apr 2020, 10:37 a.m.
Panel Version: 0.73
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome 7 MIM#615846
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- 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 to Aicardi-Goutieres syndrome 7 MIM#615846
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IFIH1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: IFIH1 was added gene: IFIH1 was added to Hereditary Spastic Paraplegia - 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 Aicardi-Goutieres syndrome 7