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| Common deletion and duplication syndromes v0.87 | ISCA-37468-Loss | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37468-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.47 | ISCA-37468-Loss | Zornitza Stark commented on Region: ISCA-37468-Loss: Contiguous gene deletion syndrome, RP2 responsible for retinal dystrophy. ID not observed in individuals with deletions involving RP2 and ZNF630, arguing against involvement of ZNF630 in the ID component observed with larger deletions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.47 | ISCA-37468-Loss | Zornitza Stark Marked Region: ISCA-37468-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.47 | ISCA-37468-Loss | Zornitza Stark Region: isca-37468-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.47 | ISCA-37468-Loss | Zornitza Stark Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578 to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.46 | ISCA-37468-Loss | Zornitza Stark Classified Region: ISCA-37468-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.46 | ISCA-37468-Loss | Zornitza Stark Region: isca-37468-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37468-Loss | Zornitza Stark reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome Xp11.3 deletion syndrome MIM#300578, intellectual disability, retinal dystrophy; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37468-Loss |
Elena Savva Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789 Phenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578 Review for Region: ISCA-37468-Loss was set to GREEN Added comment: Established CNV One-third of XL retinal dystrophies are accounted for by RP2 mutations at the Xp11.23 locus. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation Sources: Expert list |
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