Genomics England
GMS Panels
Panels
Genes and Entities

TUBGCP2

tubulin gamma complex associated protein 2
PanelMode of inheritanceDetails
3 panels
Green
in Early onset or syndromic epilepsy
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
Green
in Malformations of cortical development
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
Green
in Severe microcephaly
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