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Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.0 JAG1 Chris Richmond gene: JAG1 was added
gene: JAG1 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 21730847; 10051485; 18097983; 9951486
Phenotypes for gene: JAG1 were set to Alagille syndrome 118450
Penetrance for gene: JAG1 were set to Complete
Review for gene: JAG1 was set to GREEN
Added comment: From PMID 21730847: "Ocular anomalies are seen in 78-95% of patients, primarily posterior embryotoxon, although other ASDs such as iris hypoplasia and small corneal diameters are also common and irido-corneal synechiae and corectopia have been occasionally reported (PMIDs 10051485, 18097983, 9951486)"
Sources: Literature