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| Structural eye disease v1.52 | COL6A3 | Ivone Leong Classified gene: COL6A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.52 | COL6A3 | Ivone Leong Gene: col6a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.51 | COL6A3 |
Ivone Leong gene: COL6A3 was added gene: COL6A3 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 33304895 Phenotypes for gene: COL6A3 were set to Peters anomaly Review for gene: COL6A3 was set to AMBER Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. Zornitza's review on the Cataracts panel (Version 2.66) "Not sure if this is the right panel for Peters anomaly. Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data. Sources: Literature Zornitza Stark (Australian Genomics), 7 Jan 2021" There is currently not enough evidence to support a gene-disease association, so this gene has been given an Amber rating. Sources: Literature |
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