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| Common deletion and duplication syndromes v0.148 | ISCA-37468-Loss | Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy to Chromosome Xp11.23 deletion syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.147 | ISCA-37468-Loss | Sarah Milton changed review comment from: Below reviews refer to a different region than that which is defined by this region/ISCA. MAOA and MAOB are the genes encompassed by this deletion with Clingen noting the phenotype is encompassed by intellectual disability, episodic hypotonia and anomalies in levels of catecholamines.; to: Below reviews refer to a different region than that which is defined by this region/ISCA. MAOA and MAOB are the genes encompassed by this deletion, with Clingen noting the phenotype is encompassed by intellectual disability, episodic hypotonia and anomalies in levels of catecholamines. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.147 | ISCA-37468-Loss | Sarah Milton reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.147 | ISCA-37468-Loss |
Sarah Milton Chromosome Xp11.3 deletion syndrome was changed to Xp11.23 region (includes MAOA and MAOB) Loss Source Expert list was removed from Region: ISCA-37468-Loss. Source ClinGen was added to Region: ISCA-37468-Loss. Gene was set to MAOB. Panel: Common deletion and duplication syndromes |
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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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