Activity
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| Skeletal dysplasia v2.190 | ISCA-37418-Loss | Arina Puzriakova commented on Region: ISCA-37418-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.190 | ISCA-37418-Loss |
Arina Puzriakova GRCh38 position for ISCA-37418-Loss was changed from 16853797-20316338 to 16906714-20309889. Required Overlap Percentage for ISCA-37418-Loss was changed from 80 to 60. |
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| Skeletal dysplasia v1.148 | ISCA-37418-Loss | Eleanor Williams Source NHS GMS was added to Region: ISCA-37418-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | ISCA-37418-Loss | Eleanor Williams commented on Region: ISCA-37418-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.105 | ISCA-37418-Loss |
Louise Daugherty Region: ISCA-37418-Loss was added Region: ISCA-37418-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities |
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