| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.330 | ZC3H11A |
Lucy Spencer changed review comment from: PMID 40864167 identified 4 individuals from a large cohort of high myopia patients with missense in ZC3H11A. All were absent from gnomad except for one with 14 hets. A KO mouse recapitulated a myopic refraction shift and displayed IKBa downregulation. Overexpression of patient missense variants in also displayed significantly reduced IKBa expression. Sources: Literature; to: PMID 40864167 identified 4 individuals from a large cohort of high myopia patients with missense in ZC3H11A. All were absent from gnomad except for one with 14 hets. A KO mouse recapitulated a myopic refraction shift and displayed IKBa downregulation. Overexpression of patient missense variants in also displayed significantly reduced IKBa expression. No segregation or further functional studies on the variants were performed Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.330 | ZC3H11A | Lucy Spencer Classified gene: ZC3H11A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.330 | ZC3H11A | Lucy Spencer Gene: zc3h11a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.329 | ZC3H11A |
Lucy Spencer gene: ZC3H11A was added gene: ZC3H11A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZC3H11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZC3H11A were set to 40864167 Phenotypes for gene: ZC3H11A were set to myopia MONDO:0001384, ZC3H11A-related Review for gene: ZC3H11A was set to AMBER Added comment: PMID 40864167 identified 4 individuals from a large cohort of high myopia patients with missense in ZC3H11A. All were absent from gnomad except for one with 14 hets. A KO mouse recapitulated a myopic refraction shift and displayed IKBa downregulation. Overexpression of patient missense variants in also displayed significantly reduced IKBa expression. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||