Genomics England

TUBB4A

tubulin beta 4A class IVa

Panel	Mode of inheritance	Details
Filter panels12 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, imprinted status unknown	Phenotypes Leukodystrophy, hypomyelinating, 6, 612438, Dystonia 4, torsion, autosomal dominant, 128101
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 4, torsion, autosomal dominant, OMIM:128101
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes hereditary whispering dysphonia, ?Dystonia 4, torsion, autosomal dominant, 128101, Dystonia, Leukodystrophy, hypomyelinating, 6 612438
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 Leukodystrophy, hypomyelinating, 6, 612438
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
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, imprinted status unknown	Phenotypes Dystonia 4, torsion, autosomal dominant, 128101, Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438, Leukodystrophy, hypomyelinating, 6, 612438
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 4, torsion, autosomal dominant, 128101, ataxia, Leukodystrophy, hypomyelinating, 612438 AD
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, hypomyelinating, 6 612438, ataxia, Dystonia 4, torsion, autosomal dominant 128101
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 HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC)
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, hypomyelinating, 6, 612438
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, hypomyelinating, 6, 612438, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Leukodystrophy, hypomyelinating 6, Dystonia 4, torsion, autosomal dominant, 128101