TUBB4A

tubulin beta 4A class IVa
OMIM: 602662
PanelMode of inheritanceDetails
12 panels
R-numbers: R56
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 4, torsion, autosomal dominant, OMIM:128101
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 6, 612438, Dystonia 4, torsion, autosomal dominant, 128101
R-numbers: R57
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hereditary whispering dysphonia, ?Dystonia 4, torsion, autosomal dominant, 128101, Dystonia, Leukodystrophy, hypomyelinating, 6 612438
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 6, 612438
R-numbers: R54
Signed-off version 3.1
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
R-numbers: R60
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 4, torsion, autosomal dominant, 128101, ataxia, Leukodystrophy, hypomyelinating, 612438 AD
R-numbers: R61
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 6 612438, ataxia, Dystonia 4, torsion, autosomal dominant 128101
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC)
R-numbers: R62
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 6, 612438
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
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