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 |
|---|---|---|---|---|
| FBN1 | monoallelic | all missense/in frame | WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT | |
| FBN1 | monoallelic | dominant negative | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | |
| FBN1 | monoallelic | loss of function | MARFAN SYNDROME | |
| FBN1 | biallelic | loss of function | MARFAN SYNDROME (biallelic, loss of function) | |
| FBN1 | monoallelic | all missense/in frame | ISOLATED ECTOPIA LENTIS | |
| FBN1 | monoallelic | dominant negative | MARFAN SYNDROME | |
| FBN1 | monoallelic | loss of function | WEILL-MARCHESANI SYNDROME 2 | |
| FBN1 | biallelic | loss of function | MARFAN SYNDROME | |
| FBN1 | monoallelic | all missense/in frame | ISOLATED ECTOPIA LENTIS | |
| FBN1 | monoallelic | dominant negative | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | |
| FBN1 | monoallelic | loss of function | WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT |