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Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37446-Loss.
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Phenotypes for Region: ISCA-37446-Loss were changed from Chromosome 22q11.2 deletion syndrome, distal MIM#611867 to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Common deletion and duplication syndromes v0.73 ISCA-37446-Loss Zornitza Stark Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Common deletion and duplication syndromes v0.72 ISCA-37446-Loss Zornitza Stark Classified Region: ISCA-37446-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.72 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.71 ISCA-37446-Loss Zornitza Stark reviewed Region: ISCA-37446-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671380; Phenotypes: Chromosome 22q11.2 deletion syndrome, distal MIM#611867, intellectual disability, autism, multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.68 ISCA-37446-Loss Elena Savva Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867
Review for Region: ISCA-37446-Loss was set to GREEN
Added comment: Established CNV

Usually de novo
All patients presented with characteristic facial dysmorphic features. A history of prematurity, prenatal and postnatal growth delay, developmental delay, and mild skeletal abnormalities was prevalent among the patients. Two patients were found to have a cardiovascular malformation, one had truncus arteriosus, and another had a bicuspid aortic valve.
Sources: Expert list