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| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Classified gene: MYRF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Added comment: Comment on list classification: Comment on list classification: New gene added by expert reviewer. This gene has been given a Green rating based on the level of evidence to support gene-disease association and also that it is also a Green gene on the GMS Structural eye disease (v1.0, code: 509). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Gene: myrf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.22 | MYRF | Ivone Leong Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.21 | MYRF |
Owen Siggs changed review comment from: Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature; to: Entry in OMIM (600165) for locus, subsequently ascribed to variants in MYRF in this same family and at least 7 others (PMID: 31048900, 31172260, 31700225, 31266062). Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature |
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| Anophthalmia or microphthalmia v1.21 | MYRF |
Owen Siggs gene: MYRF was added gene: MYRF was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225 Phenotypes for gene: MYRF were set to Nanophthalmos; high hyperopia Penetrance for gene: MYRF were set to Complete Review for gene: MYRF was set to GREEN Added comment: Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature |
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