| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bilateral congenital or childhood onset cataracts v2.66 | COL6A3 | Ivone Leong Classified gene: COL6A3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.66 | COL6A3 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene has been given a Red rating as this phenotype is not appropriate for this panel. This gene has been added to the Structural eye disease panel (panel ID: 509). |
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| Bilateral congenital or childhood onset cataracts v2.66 | COL6A3 | Ivone Leong Gene: col6a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.54 | COL6A3 |
Zornitza Stark gene: COL6A3 was added gene: COL6A3 was added to Cataracts. 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: 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 |
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