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| Eye Anterior Segment Abnormalities v0.44 | COL6A3 | Zornitza Stark Marked gene: COL6A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.44 | COL6A3 | Zornitza Stark Gene: col6a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.44 | COL6A3 | Zornitza Stark Classified gene: COL6A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.44 | COL6A3 | Zornitza Stark Gene: col6a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.43 | COL6A3 |
Zornitza Stark gene: COL6A3 was added gene: COL6A3 was added to Eye Anterior Segment Abnormalities. 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: 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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