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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37494-Loss | Arina Puzriakova commented on Region: ISCA-37494-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37494-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37494-Loss was changed from None to . Required Overlap Percentage for ISCA-37494-Loss was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.613 | ISCA-37494-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37494-Loss 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 v2.608 | ISCA-37494-Loss | Louise Daugherty Classified Region: ISCA-37494-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.608 | ISCA-37494-Loss | Louise Daugherty Region: isca-37494-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.601 | ISCA-37494-Loss |
Louise Daugherty Region: ISCA-37494-Loss was added Region: ISCA-37494-Loss was added to Intellectual disability. Sources: Expert list Mode of inheritance for Region: ISCA-37494-Loss 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-Loss were set to 25927380; 21984752 Phenotypes for Region: ISCA-37494-Loss were set to PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features; deletion results in skewed chromosome X inactivation and no clinical phenotype in females; PMID: 21984752 in utero male lethality with deletions Review for Region: ISCA-37494-Loss was set to GREEN Added comment: Sources: Expert list |
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