Glaucoma (developmental)
Gene: IFIH1EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease association. This gene has been given a Green rating.Created: 16 Apr 2021, 1:40 p.m. | Last Modified: 16 Apr 2021, 1:40 p.m.
Panel Version: 1.22
Comment on publications: PMID: 29703882. "4-year-old boy with a diagnosis of AGS, global developmental delay, glucose-6-phosphate dehydrogenase (G6PD) deficiency, patent ductus arteriosus (PDA), congenital glaucoma, and aniridia. Family history was positive for glaucoma, with consanguineously married parents. According to the genetics report, both parents were carriers of congenital glaucoma genes."
PMID: 31898846. Glaucoma found as part of the phenotype.Created: 16 Apr 2021, 1:40 p.m. | Last Modified: 16 Apr 2021, 1:40 p.m.
Panel Version: 1.21
Zornitza Stark (Australian Genomics)
Glaucoma is a feature of this condition.
Sources: Expert listCreated: 2 Aug 2020, 10:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Singleton-Merten syndrome 1, MIM# 182250
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Singleton-Merten syndrome 1, OMIM:182250
- OMIM
- 606951
- Clinvar variants
- Variants in IFIH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- COVID-19 research
- Structural eye disease
- Inherited white matter disorders
- Intellectual disability
- Fetal anomalies
- DDG2P
- Childhood onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Glaucoma (developmental)
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ifih1 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: IFIH1 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: IFIH1 were changed from Singleton-Merten syndrome 1, MIM# 182250 to Singleton-Merten syndrome 1, OMIM:182250
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: IFIH1 was added gene: IFIH1 was added to Glaucoma (developmental). 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 gene: IFIH1 was marked as current diagnostic