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| Skeletal dysplasia v2.190 | ISCA-37501-Loss | Arina Puzriakova commented on Region: ISCA-37501-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.190 | ISCA-37501-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37501-Loss was changed from None to . Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60. |
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| Skeletal dysplasia v1.143 | ISCA-37501-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Skeletal dysplasia v1.142 | ISCA-37501-Loss | Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.142 | ISCA-37501-Loss | Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.141 | ISCA-37501-Loss |
Louise Daugherty Region: ISCA-37501-Loss was added Region: ISCA-37501-Loss was added to Skeletal dysplasia. Sources: Expert list Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739 Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss Review for Region: ISCA-37501-Loss was set to GREEN Added comment: Sources: Expert list |
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