Structural eye disease
Gene: IFIH1
Rice et al. 2020: 5/74 cases with IFIH1 gain of function variants had early onset glaucoma. Musalem et al. 2018 Aicardi-Goutieres syndrome case with congenital glaucoma and aniridia with het missense in IFIH1 but also biallelic CYP1B1 variant.Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aicardi-Goutieres syndrome
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:54 a.m. | Last Modified: 8 Mar 2022, 10:54 a.m.
Panel Version: 1.115
This gene is also Green on the Glaucoma (developmental) (Version 1.22) panel.
"Glaucoma is a feature of this condition. Sources: Expert list
Zornitza Stark (Australian Genomics), 2 Aug 2020"
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.
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be given a Green rating at the next review.
Sources: LiteratureCreated: 16 Apr 2021, 1:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Singleton-Merten syndrome 1, OMIM:182250
Publications
Tag Q2_21_rating was removed from gene: IFIH1.
Source Expert Review Green was added to IFIH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ifih1 has been classified as Amber List (Moderate Evidence).
gene: IFIH1 was added gene: IFIH1 was added to Structural eye disease. Sources: Literature Q2_21_rating tags were added to gene: IFIH1. Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 29703882; 31898846 Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, OMIM:182250 Review for gene: IFIH1 was set to GREEN