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Intellectual disability - microarray and sequencing v3.1520 | ISCA-37396-Loss | Ivone Leong commented on Region: ISCA-37396-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.1520 | ISCA-37396-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37396-Loss was changed from None to . Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60. |
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Intellectual disability - microarray and sequencing v2.610 | ISCA-37396-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Intellectual disability - microarray and sequencing v2.604 | ISCA-37396-Loss | Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.604 | ISCA-37396-Loss | Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.603 | ISCA-37396-Loss | Louise Daugherty Marked Region: ISCA-37396-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.603 | ISCA-37396-Loss | Louise Daugherty Region: isca-37396-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.598 | ISCA-37396-Loss |
Louise Daugherty Region: ISCA-37396-Loss was added Region: ISCA-37396-Loss was added to Intellectual disability. Sources: Expert list Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321 Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia Review for Region: ISCA-37396-Loss was set to GREEN Added comment: Sources: Expert list |