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
absent gene product
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. (Hum Mutat 39: 1014-1023, 2018)