Hereditary spastic paraplegia - 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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood and Adult onset
Created: 10 May 2019, 10:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Reported in several cases with hypomyelinating leukodystrophy-6 featuring spasticity as clinical phenotype
Created: 28 Apr 2019, 4:16 p.m.

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

Phenotypes
Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating; Mast syndrome, 248900 SPATI, AD; 612438; ataxia

Arianna Tucci (Genomics England Curator)

onset in infancy or early childhood
Created: 25 Feb 2019, 11:10 a.m.

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TUBB4A.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TUBB4A.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TUBB4A.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukodystrophy, hypomyelinating, 6 612438; ataxia; Dystonia 4, torsion, autosomal dominant 128101 for gene: TUBB4A

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Onset at birth

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: TUBB4A was added gene: TUBB4A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant 128101; ataxia; Leukodystrophy, hypomyelinating, 6 612438