Cerebral Palsy
Gene: TUBB4AEnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 14 panels
2 reviews
Clare van Eyk (University of Adelaide)
2 additional individuals with LP missense variants reported in large-scale exome sequencing study (PMID: 38693247).Created: 27 May 2024, 2:58 p.m. | Last Modified: 27 May 2024, 2:58 p.m.
Panel Version: 1.194
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 4, torsion, autosomal dominant, MIM#128101; Leukodystrophy, hypomyelinating, 6, MIM#612438
Publications
- PMID: 38693247
Chirag Patel (Genetic Health Queensland)
Van Eyk et al. (2021) reported 1 patient with dystonic CP with de novo variant. Moreno-De-Luca et al. (2021) reported 6 patients with CP with P/LP variants.
Sources: LiteratureCreated: 7 Oct 2021, 12:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Dystonia 4, torsion, autosomal dominant, OMIM #128101
- Leukodystrophy, hypomyelinating, 6, OMIM # 612438
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- None
- Publications
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TUBB4A were set to 34531397; 33528536
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tubb4a has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TUBB4A were set to PMID: 34531397, 33528536
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tubb4a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tubb4a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tubb4a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TUBB4A was added gene: TUBB4A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB4A were set to PMID: 34531397, 33528536 Phenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438 Review for gene: TUBB4A was set to GREEN