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  2. Hereditary Spastic Paraplegia - adult onset
  3. TUBB4A
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Hereditary Spastic Paraplegia - adult onset

Gene: TUBB4A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Complex neurological disorder with childhood onset, spasticity is a feature.
Sources: Expert list
Created: 12 Jun 2020, 1:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 6, MIM# 612438

Publications

Created: 12 Jun 2020, 1:24 a.m.

Panel version: 0.107

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • ataxia
  • Leukodystrophy, hypomyelinating, 612438 AD
  • Dystonia 4, torsion, autosomal dominant, 128101
OMIM
602662
Clinvar variants
Variants in TUBB4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb4a has been classified as Amber List (Moderate Evidence).

16 Mar 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB4A were set to

16 Mar 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb4a has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TUBB4A was added gene: TUBB4A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to ataxia; Leukodystrophy, hypomyelinating, 612438 AD; Dystonia 4, torsion, autosomal dominant, 128101