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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37494-Gain | Arina Puzriakova commented on Region: ISCA-37494-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37494-Gain |
Arina Puzriakova Haploinsufficiency Score for ISCA-37494-Gain was changed from None to . Required Overlap Percentage for ISCA-37494-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.615 | ISCA-37494-Gain |
Louise Daugherty Haploinsufficiency Score for ISCA-37494-Gain was changed from 3 to None. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Intellectual disability - microarray and sequencing v2.607 | ISCA-37494-Gain | Louise Daugherty Classified Region: ISCA-37494-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.607 | ISCA-37494-Gain | Louise Daugherty Region: isca-37494-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.602 | ISCA-37494-Gain |
Louise Daugherty Region: ISCA-37494-Gain was added Region: ISCA-37494-Gain was added to Intellectual disability. Sources: Expert list Mode of inheritance for Region: ISCA-37494-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-37494-Gain were set to 25927380; 21984752; 24357492 Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome, 300815; X linked intellectual disability (XLID); PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features; duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes; PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip); PMID:24357492 Cognitive impairment in male patients Review for Region: ISCA-37494-Gain was set to GREEN Added comment: Sources: Expert list |
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