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| Glaucoma (developmental) v1.22 | IFIH1 | Ivone Leong Classified gene: IFIH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.22 | IFIH1 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.22 | IFIH1 | Ivone Leong Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.21 | IFIH1 |
Ivone Leong Added comment: 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. |
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| Glaucoma (developmental) v1.21 | IFIH1 | Ivone Leong Publications for gene: IFIH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.20 | IFIH1 | Ivone Leong Phenotypes for gene: IFIH1 were changed from Singleton-Merten syndrome 1, MIM# 182250 to Singleton-Merten syndrome 1, OMIM:182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.8 | IFIH1 |
Zornitza Stark 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 Added comment: Glaucoma is a feature of this condition. Sources: Expert list |
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