Speech apraxia
Gene: TAOK2EnsemblGeneIds (GRCh38): ENSG00000149930
EnsemblGeneIds (GRCh37): ENSG00000149930
OMIM: 613199, Gene2Phenotype
TAOK2 is in 5 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with an de novo TAOK2 missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert ReviewCreated: 28 Jun 2024, 6:01 a.m. | Last Modified: 1 Jul 2024, 11:14 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder (MONDO:0700092), TAOK2-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodevelopmental disorder (MONDO:0700092), TAOK2-related
- OMIM
- 613199
- Clinvar variants
- Variants in TAOK2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taok2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taok2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: TAOK2 was added gene: TAOK2 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK2 were set to 36117209 Phenotypes for gene: TAOK2 were set to Neurodevelopmental disorder (MONDO:0700092), TAOK2-related Review for gene: TAOK2 was set to RED