TUBG1

PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Posteriorly predominant pachygyria and severe microcephaly
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical dysplasia, complex, with other brain malformations 4, 615412
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical dysplasia, complex, with other brain malformations 4, 615412
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical dysplasia, complex, with other brain malformations 4 615412