The GenCC develops consistent terminology for describing gene-disease validity. As part of the GenCC we aligned our existing terms to the new terminology.
Please find out more about the update here.
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
FBN1 | biallelic_autosomal | altered gene product structure | Marfan Syndrome, biallelic | DD | |
FBN1 | monoallelic_autosomal | absent gene product | MARFAN SYNDROME | DD | |
FBN1 | monoallelic_autosomal | altered gene product structure | WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT | DD | |
FBN1 | monoallelic_autosomal | altered gene product structure | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | DD,Skin | |
FBN1 | biallelic_autosomal | absent gene product | MARFAN SYNDROME (biallelic, loss of function) | Eye | |
FBN1 | monoallelic_autosomal | absent gene product | WEILL-MARCHESANI SYNDROME 2 | Eye | |
FBN1 | monoallelic_autosomal | altered gene product structure | MARFAN SYNDROME | Eye | |
FBN1 | monoallelic_autosomal | altered gene product structure | ISOLATED ECTOPIA LENTIS | Eye,Skin | |
FBN1 | biallelic_autosomal | absent gene product | MARFAN SYNDROME | Skin | |
FBN1 | monoallelic_autosomal | absent gene product | WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT | Skin |