For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
BFSP2 | monoallelic_autosomal | uncertain | CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED | DD | |
BFSP2 | biallelic_autosomal | altered gene product structure | BFSP2-related CATARACT 12, MULTIPLE TYPES (biallelic, all missense/in frame) | Eye | |
BFSP2 | monoallelic_autosomal | uncertain | BFSP2-related CATARACT 12, MULTIPLE TYPES | Eye |