Activity
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| Pigmentary skin disorders v1.46 | ISCA-37431-Loss | Arina Puzriakova commented on Region: ISCA-37431-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.46 | ISCA-37431-Loss |
Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008. Triplosensitivity Score for ISCA-37431-Loss was changed from None to . Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60. |
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| Pigmentary skin disorders v0.15 | ISCA-37431-Loss | Catherine Snow Classified Region: ISCA-37431-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.15 | ISCA-37431-Loss | Catherine Snow Region: isca-37431-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.14 | ISCA-37431-Loss |
Catherine Snow Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Pigmentary skin disorders. Sources: ClinGen,Expert Review Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb Review for Region: ISCA-37431-Loss was set to GREEN Added comment: Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green region. Sources: ClinGen, Expert Review |
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