PanelApp (test)
  1. Genes and Genomic Entities
  2. TUBGCP2

TUBGCP2

tubulin gamma complex component 2
OMIM: 617817, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TUBGCP2 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Lissencephaly
  • pachygyria
  • subcortical band heterotopia
  • microcephaly
  • intellectual disability

Green TUBGCP2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737