TUBGCP2

tubulin gamma complex associated protein 2
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737