Hereditary ataxia with onset in adulthood
Gene: TUBB4A
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.
Multiple cases and variants reported in literatureCreated: 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
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 ataxiaCreated: 9 Jan 2019, 11:38 a.m.
Source London North GMS was added to TUBB4A.
Added phenotypes Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 for gene: TUBB4A
Source NHS GMS was added to TUBB4A.
Source Wessex and West Midlands GLH was added to TUBB4A.
Louise Daugherty: Comment on phenotypes: Implica
Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
gene: TUBB4A was added gene: TUBB4A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 25497598 Phenotypes for gene: TUBB4A were set to Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments