TUBB2B:Ensemblv115

tubulin beta 2B class IIb
OMIM: 612850, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TUBB2B in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Australian Genomics Health Alliance Brain Malformations Flagship Victorian Clinical Genetics Services Expert Review Green
Green TUBB2B in Tubulinopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Brain Malformations Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Amber TUBB2B in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Green TUBB2B in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM # 610031
Green TUBB2B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Green TUBB2B in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Red TUBB2B in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Red Phenotypes Fibrosis of extraocular muscles, congenital Cortical dysplasia, complex, with other brain malformations 7
Green TUBB2B in Fetal anomalies Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 7 MIM#610031