TUBB3

tubulin beta 3 class III
OMIM: 602661, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green TUBB3 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 1.4 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Green TUBB3 in Tubulinopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Green TUBB3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.6 Component of the following Super Panels: Neuromuscular Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Fibrosis of extraocular muscles, congenital, 3A (MIM#600638) Neuropathy Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666
Green TUBB3 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Green TUBB3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations MIM#614039
Green TUBB3 in Mendeliome Version 2.588	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638 Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay MIM#621655 Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666
Green TUBB3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.42 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Green TUBB3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.25	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TUBB3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes complex cortical dysplasia with other brain malformations 1 MONDO:0013541 Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay MIM#621655 Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666
Green TUBB3 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.101 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Fibrosis of extraocular muscles, congenital, 3A (MIM#600638) Neuropathy Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666
Green TUBB3 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.21	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Phenotypes TUBB3-related tubulinopathy, MONDO:0100154 Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay, MIM#621655
Green TUBB3 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 2.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrosis of extraocular muscles, congenital, 3A 600638 CFEOM3A Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay MIM#621655 Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666
Green TUBB3 in Fetal anomalies Version 2.81	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039
Green TUBB3 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.18	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes TUBB3-related tubulinopathy, MONDO:0100154 Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay, MIM#621655