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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37478-Gain | Eleanor Williams commented on Region: ISCA-37478-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37478-Gain |
Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728. Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.400 | ISCA-37478-Gain |
Louise Daugherty Haploinsufficiency Score for ISCA-37478-Gain was changed from None to . Source ClinGen was added to Region: ISCA-37478-Gain. |
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| Intellectual disability - microarray and sequencing v2.399 | ISCA-37478-Gain |
Louise Daugherty GRCh38 position for ISCA-37478-Gain was changed from - to 23513243-28312040. Haploinsufficiency Score for ISCA-37478-Gain was changed from to None. Source ClinGen was removed from Region: ISCA-37478-Gain. Source Other was added to Region: ISCA-37478-Gain. |
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| Intellectual disability - microarray and sequencing v2.398 | ISCA-37478-Gain |
Louise Daugherty Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540 Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems |
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