Dystonia - childhood onset

Gene: TUBB4A

Green List (high evidence)

TUBB4A (tubulin beta 4A class IVa)
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 20 panels

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History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TUBB4A was added gene: TUBB4A was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to 27809427; 24526230; 24850488; 23582646 Phenotypes for gene: TUBB4A were set to ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia; Leukodystrophy, hypomyelinating, 6 612438