We have updated our terminology

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

Search results for FBN1

Gene symbol	Genotype	Mutation consequence	Disease	Panels
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