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| Structural eye disease v1.115 | IFIH1 | Ivone Leong Tag Q2_21_rating was removed from gene: IFIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.115 | IFIH1 | Ivone Leong commented on gene: IFIH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.114 | IFIH1 |
Ivone Leong Source Expert Review Green was added to IFIH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.101 | IFIH1 | Nicola Ragge reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29703882, 31898846; Phenotypes: Aicardi-Goutieres syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.59 | IFIH1 | Ivone Leong Classified gene: IFIH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.59 | IFIH1 | Ivone Leong Gene: ifih1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.58 | IFIH1 |
Ivone Leong 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 Added comment: 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: Literature |
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