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Intellectual disability syndromic and non-syndromic v2.129 ISCA-37397-Gain Sarah Milton GRCh38 position for ISCA-37397-Gain was changed from 21443089-23306926 to 21562828-22620608.
Source Expert list was removed from Region: ISCA-37397-Gain.
Source Expert list was removed from Region: ISCA-37397-Gain.
Source ClinGen was added to Region: ISCA-37397-Gain.
Intellectual disability syndromic and non-syndromic v2.0 ISCA-37397-Gain Region ISCA-37397-Gain migrated (gene set migration)
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37397-Gain Zornitza Stark Marked Region: ISCA-37397-Gain as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37397-Gain Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.483 Sarah Milton Copied Region ISCA-37397-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.483 ISCA-37397-Gain Sarah Milton Region: ISCA-37397-Gain was added
Region: ISCA-37397-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37397-Gain.
Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Gain were set to 21671380; 31479204
Phenotypes for Region: ISCA-37397-Gain were set to Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal; intellectual disability; dysmorphic features; congenital anomalies