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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37446-Gain | Arina Puzriakova commented on Region: ISCA-37446-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37446-Gain |
Arina Puzriakova GRCh38 position for ISCA-37446-Gain was changed from 18924718-21111384 to 18924718-21111383. Required Overlap Percentage for ISCA-37446-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.402 | ISCA-37446-Gain |
Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain Added phenotypes intellectual disability and congenital abnormalities,Autism; chromosome 22q11.2 microduplication; 608363; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal for Region: ISCA-37446-Gain |
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| Intellectual disability - microarray and sequencing v2.400 | ISCA-37446-Gain | Louise Daugherty GRCh38 position for ISCA-37446-Gain was changed from 18178958-21207225 to 18924718-21111384. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.398 | ISCA-37446-Gain |
Louise Daugherty Region: ISCA-37446-Gain was added Region: ISCA-37446-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37446-Gain were set to 23044707; 22970919 Phenotypes for Region: ISCA-37446-Gain were set to chromosome 22q11.2 microduplication; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal; 608363; intellectual disability and congenital abnormalities,Autism |
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