Glaucoma (developmental)
Gene: IFIH1Comment 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
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
Gene: ifih1 has been classified as Green List (High Evidence).
Publications for gene: IFIH1 were set to
Phenotypes for gene: IFIH1 were changed from Singleton-Merten syndrome 1, MIM# 182250 to Singleton-Merten syndrome 1, OMIM:182250
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