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Intellectual disability syndromic and non-syndromic

Gene: TUBB4A

Green List (high evidence)

TUBB4A (tubulin beta 4A class IVa)
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 14 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

37529938: one affected individual with epileptic spasm and severe psychomotor retardation

35661708: child with delayed motor development, intellectual disability, and dystonia

27538619: 8-year-old girl with a diagnosis of sporadic spastic paraplegia and borderline mental disability

24526230: 9-year-old boy who presented to our metabolic-neurogenetic clinic for slowly progressive spastic paraparesis, associated with intellectual disability and behavioral problems. Serial brain MRI's that showed regional hypomyelination and progressive cerebellar atrophy. Exome sequencing revealed an E410K mutation in the β-tubulin 4a (TUBB4A) gene
Created: 15 Sep 2023, 3:13 a.m. | Last Modified: 15 Sep 2023, 3:13 a.m.
Panel Version: 0.5399

Phenotypes
hypomyelinating leukodystrophy 6 MONDO:0012905; torsion dystonia 4 MONDO:0007493

Publications

History Filter Activity

18 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb4a has been classified as Green List (High Evidence).

18 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBB4A were changed from to hypomyelinating leukodystrophy 6 MONDO:0012905

18 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB4A were set to

18 Sep 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBB4A was added gene: TUBB4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB4A was set to Unknown