Hereditary ataxia with onset in adulthood

Gene: TUBB4A

Green List (high evidence)

On Oxford panel. 41 DM in HGMD - 22 of which include cerebellar atrophy/ataxia. Ataxia is a prominent feature of the patients reported by Van der Knaap et al. (2007) and Miyatake et al. (2014) (OMIM)

Created: 27 Apr 2019, 7:39 p.m.

Green List (high evidence)

Multiple cases and variants reported in literature

Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.

Created: 15 Apr 2019, 10:21 a.m.

Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia

Created: 9 Jan 2019, 11:38 a.m.