Genomics England

TUBB4A

tubulin beta 4A class IVa

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 4, torsion, autosomal dominant, OMIM:128101
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 4, torsion, autosomal dominant, 128101, ataxia, Leukodystrophy, hypomyelinating, 612438 AD
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, hypomyelinating, 6, 612438
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, hypomyelinating, 6, 612438, Dystonia 4, torsion, autosomal dominant, 128101
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes hereditary whispering dysphonia, ?Dystonia 4, torsion, autosomal dominant, 128101, Dystonia, Leukodystrophy, hypomyelinating, 6 612438
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, hypomyelinating, 6 612438, ataxia, Dystonia 4, torsion, autosomal dominant 128101
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
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 R-numbers: R59 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, hypomyelinating, 6, 612438
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	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 Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC)
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	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