Hereditary spastic paraplegia

Gene: TUBB4A

Green List (high evidence)

TUBB4A (tubulin beta 4A class IVa)
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene is green on the Early onset dystonia Version 1.30, Hereditary ataxia Version 1.56, Intellectual disability Version 1.110, Inherited white matter disorders Version 1.6, Structural basal ganglia disorders Version 1.0 gene panels and was discussed and agreed with Arianna Tucci that this gene should also be green on the HSP panel.
Created: 31 Mar 2017, 11:12 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia 4, torsion, autosomal dominant 128101; Leukodystrophy, hypomyelinating, 6 612438; ataxia

History Filter Activity

31 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Mar 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TUBB4A was created by ellenmcdonagh

31 Mar 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TUBB4A was added to Hereditary spastic paraplegiapanel. Sources: Expert Review