Glaucoma congenital
Gene: IFIH1
IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Glaucoma is a feature of this condition.
Sources: Expert listCreated: 2 Aug 2020, 10:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Singleton-Merten syndrome 1, MIM# 182250
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Singleton-Merten syndrome 1, MIM# 182250
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- None
- 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
2 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ifih1 has been classified as Green List (High Evidence).
2 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ifih1 has been classified as Green List (High Evidence).
2 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IFIH1 was added gene: IFIH1 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, MIM# 182250 Review for gene: IFIH1 was set to GREEN