Ataxia - paediatric

Gene: TUBA1A

Green List (high evidence)

The association with cortical malformations is well established.

Created: 11 Jun 2021, 4:15 a.m. | Last Modified: 11 Jun 2021, 4:15 a.m.

Panel Version: 0.7926

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 3, MIM# 611603

Green List (high evidence)

PMID: 30677308 New genotype-phenotype correlation - congenital fibrosis of the extraocular muscles (CFEOM), with or without malformations of cortical brain development.

3 unrelated probands with CFEOM who harbored novel heterozygous TUBA1A missense variants c.1216C>G, p.(His406Asp); c.467G>A, p.(Arg156His); and c.1193T>G, p.(Met398Arg). MRI revealed small oculomotor-innervated muscles and asymmetrical caudate heads and lateral ventricles with or without corpus callosal thinning. Two of the three probands had MCD.

Distinct missense variants in the beta-tubulin encoding genes TUBB3 and TUBB2B cause MCD, CFEOM, or both, suggesting substitution-specific mechanisms.

Created: 7 Jun 2021, 5:45 a.m. | Last Modified: 7 Jun 2021, 5:45 a.m.

Panel Version: 0.7891

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital fibrosis of the extraocular muscles, AD

Publications

• 30677308

Red List (low evidence)

Ataxia is not a prominent feature of the condition. It has only been reported in a single family.

Created: 17 Apr 2020, 1:45 a.m. | Last Modified: 17 Apr 2020, 1:45 a.m.

Panel Version: 0.157

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 21403111