Cerebral Palsy
Gene: TBX6
TBX6 (T-box 6)
EnsemblGeneIds (GRCh38): ENSG00000149922
EnsemblGeneIds (GRCh37): ENSG00000149922
OMIM: 602427, Gene2Phenotype
TBX6 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000149922
EnsemblGeneIds (GRCh37): ENSG00000149922
OMIM: 602427, Gene2Phenotype
TBX6 is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with likely pathogenic missense variant reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided.
Sources: LiteratureCreated: 27 May 2024, 2:37 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 5, MIM#122600
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spondylocostal dysostosis 5, MIM#122600
- OMIM
- 602427
- Clinvar variants
- Variants in TBX6
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbx6 has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbx6 has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: TBX6 was added gene: TBX6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TBX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TBX6 were set to PMID: 38693247 Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5, MIM#122600 Review for gene: TBX6 was set to RED