| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.356 | COL4A2 | Zornitza Stark Marked gene: COL4A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.356 | COL4A2 | Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.356 | COL4A2 | Zornitza Stark Classified gene: COL4A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.356 | COL4A2 | Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.355 | COL4A2 |
Ee Ming Wong gene: COL4A2 was added gene: COL4A2 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to PMID: 26708157; 24203695 Phenotypes for gene: COL4A2 were set to Cataract (MONDO:0005129), COL4A2-related Review for gene: COL4A2 was set to AMBER gene: COL4A2 was marked as current diagnostic Added comment: - PMID: 26708157: One family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities where p.Gly800Glu was identified in affected family members. The cataracts identified in this family was considered a phenotypic expansion associated with COL4A2 mutation. - PMID: 24203695: Heterozygous mice carrying the COL4A2 p.(Gly646Asp) variant demonstrated cerebral, muscular and ocular phenotypes including cataract. Sources: Literature |
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