TUBB4A

tubulin beta 4A class IVa
OMIM: 602662
PanelMode of inheritanceDetails
12 panels
R-numbers: R56
Signed-off version 1.14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Complex parkinsonism, hypomyelinating leukodystrophy 6, ?Dystonia 4, torsion, autosomal dominant, 128101, Dystonia, hereditary whispering dysphonia
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 6, 612438, Dystonia 4, torsion, autosomal dominant, 128101
R-numbers: R57
Signed-off version 1.58
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 6, 612438
R-numbers: R54
Signed-off version 2.13
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 1.12
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 2.18
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 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC)
R-numbers: R62
Signed-off version 1.6
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 1.12
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