| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.584 | RRAGA | Zornitza Stark Marked gene: RRAGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.584 | RRAGA | Zornitza Stark Gene: rraga has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.584 | RRAGA | Zornitza Stark Classified gene: RRAGA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.584 | RRAGA | Zornitza Stark Gene: rraga has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.583 | RRAGA |
Zornitza Stark gene: RRAGA was added gene: RRAGA was added to Cataract. Sources: Literature Mode of inheritance for gene: RRAGA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAGA were set to 27294265 Phenotypes for gene: RRAGA were set to Cataract, MONDO:0005129, RRAGA-related Review for gene: RRAGA was set to AMBER Added comment: PMID 27294265 reports 11 individuals from 3 unrelated families with heterozygous RRAGA variants presenting with autosomal dominant cataracts (juvenile-onset progressive posterior subcapsular cataract in 10 patients from 2 families; congenital nuclear cataract in 1 patient). The missense p.Leu60Arg co‑segregates with disease (LOD 2.975) and activates mTORC1 signalling in lens epithelial cells; the 5′‑UTR c.-16G>A reduces promoter activity (~80%). The missense variant is present in one of the multiplex families and in an independent individual -- appears that the two families are not related and these are independent events. Nevertheless, two variants only and no direct functional work to link to cataract pathogenesis, hence Amber rating. Sources: Literature |
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