Early-onset Parkinson disease
Gene: TUBB4A
TUBB4A (tubulin beta 4A class IVa)
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 14 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: More suitable for the dystonia panelCreated: 21 Apr 2024, 4:15 a.m. | Last Modified: 21 Apr 2024, 4:15 a.m.
Panel Version: 0.340
Kaitlyn Dianna Weldon (University of Melbourne)
Parkinson disease and parkinsonism is not a prominent feature of Hereditary Spastic Paraplegia or TUBB4A-Related Leukodystrophy caused by TUBB4ACreated: 7 Sep 2023, 10:53 p.m. | Last Modified: 7 Sep 2023, 10:53 p.m.
Panel Version: 0.264
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- None
- Panels with this gene
-
- Early-onset Parkinson disease
- Regression
- Leukodystrophy - adult onset
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Mendeliome
- Dystonia - isolated/combined
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
21 Apr 2024, Gel status: 1
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Apr 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tubb4a has been classified as Red List (Low Evidence).
21 Apr 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tubb4a has been classified as Red List (Low Evidence).
17 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 Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: TUBB4A was set to Unknown