| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Deafness and congenital structural abnormalities v1.19 | ISCA-37396-Loss | Ivone Leong commented on Region: ISCA-37396-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.19 | 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.15 | 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.14 | ISCA-37396-Loss | Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.14 | ISCA-37396-Loss | Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.12 | ISCA-37396-Loss |
Louise Daugherty Region: ISCA-37396-Loss was added Region: ISCA-37396-Loss was added to Deafness and congenital structural abnormalities. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||