Genomics England

TUBB2B

tubulin beta 2B class IIb

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes POLYMICROGYRIA ASYMMETRIC 610031
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation - Paediatric disorders Signed-off version 8.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031