TUBGCP2

tubulin gamma complex associated protein 2
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and Lissencephaly Spectrum Disorders
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
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 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737