For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panel |
|---|---|---|---|---|
| SDHD | monoallelic | all missense/in frame | CARCINOID TUMORS, INTESTINAL | |
| SDHD | monoallelic | loss of function | PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS | |
| SDHD | monoallelic | activating | Pheochromocytoma | |
| SDHD | monoallelic | all missense/in frame | CARCINOID TUMORS, INTESTINAL | |
| SDHD | monoallelic | loss of function | PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS |