| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genomic newborn screening: BabyScreen+ v2.0 | GSDME | Gene symbol changed from DFNA5 to GSDME during gene set migration (ENSG00000105928 -> ENSG00000105928) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.867 | DFNA5 |
Zornitza Stark commented on gene: DFNA5: Assessed as DEFINITIVE by ClinGen, over a 150 affected individuals reported, supportive functional data including animal models. New HGNC approved name is GSDME. However, age of onset is typically 11-50, therefore exclude. |
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