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| Mendeliome v1.1350 | CCDC66 | Ain Roesley Phenotypes for gene: CCDC66 were changed from to myopia MONDO:0001384, CCDC66-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1349 | CCDC66 | Ain Roesley Classified gene: CCDC66 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1349 | CCDC66 | Ain Roesley Gene: ccdc66 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1348 | CCDC66 | Ain Roesley Marked gene: CCDC66 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1348 | CCDC66 |
Ain Roesley Added comment: Comment when marking as ready: de novo NMD in another family 5 other de novo missense (D94E absent in nomad, T121A 25 hets, R499C 31 hets, R553Q 59 hets, K803E 40 hets) noted that there's lots of NMD variants in gnomad v4 |
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| Mendeliome v1.1348 | CCDC66 | Ain Roesley Gene: ccdc66 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1340 | CCDC66 |
Anna Ritchie gene: CCDC66 was added gene: CCDC66 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC66 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC66 were set to PMID: 37852749 Review for gene: CCDC66 was set to RED Added comment: Nonsense variant (c.172C>T, p.Q58X) segregating in family with 5 affected members with high myopia (HM). Additionally, one family member with the variant displayed no symptoms, hinting at possible incomplete penetrance. Six other rare variants were identified in 200 sporadic high myopia patients that could potentially be linked to HM. A deficiency in CCDC66 might disrupt cell proliferation by influencing the mitotic process during retinal growth, leading to HM. Sources: Literature |
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