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| Intellectual disability v3.1520 | ISCA-46299-Gain | Arina Puzriakova commented on Region: ISCA-46299-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1520 | ISCA-46299-Gain |
Arina Puzriakova Haploinsufficiency Score for ISCA-46299-Gain was changed from None to . Required Overlap Percentage for ISCA-46299-Gain was changed from 80 to 60. |
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| Intellectual disability v2.609 | ISCA-46299-Gain |
Louise Daugherty Haploinsufficiency Score for ISCA-46299-Gain was changed from 0 to None. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Intellectual disability v2.606 | ISCA-46299-Gain | Louise Daugherty Classified Region: ISCA-46299-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.606 | ISCA-46299-Gain | Louise Daugherty Region: isca-46299-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.600 | ISCA-46299-Gain |
Louise Daugherty Region: ISCA-46299-Gain was added Region: ISCA-46299-Gain was added to Intellectual disability. Sources: Expert list Mode of inheritance for Region: ISCA-46299-Gain 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-46299-Gain were set to 22840365; 20655035; 26692240 Phenotypes for Region: ISCA-46299-Gain were set to X linked intellectual disability (XLID); PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate; PMID:22840365 Mild intellectual disability; PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22) Review for Region: ISCA-46299-Gain was set to GREEN Added comment: Sources: Expert list |
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