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Autism

Gene: TAOK2

Amber List (moderate evidence)
TAOK2 (TAO kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000149930
EnsemblGeneIds (GRCh37): ENSG00000149930
OMIM: 613199, Gene2Phenotype
TAOK2 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Good mouse model, but some uncertainty in the human data
Created: 17 Mar 2021, 11:58 p.m. | Last Modified: 17 Mar 2021, 11:58 p.m.
Panel Version: 0.139
One of the several genes in the 16p11.2 microdeletion region associated with autism. Taok2 heterozygous and knockout mice had gene dosage-dependent impairments in cognition, anxiety, social interaction, brain size, and neural connectivity. 3 de novo variants and 3 predicted loss of function variants identified in 6 unrelated autism cases. 2 of the de novo variants have supporting functional assays, but 1 of them co-occurs in an individual with a CHD8 frameshift. 1 of the predicted loss of function variants was also identified in the unaffected father and sibling.
Sources: Literature
Created: 17 Mar 2021, 11:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Created: 17 Mar 2021, 11:57 p.m.

Panel version: 0.138

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autism
OMIM
613199
Clinvar variants
Variants in TAOK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: taok2 has been classified as Amber List (Moderate Evidence).

17 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: taok2 has been classified as Amber List (Moderate Evidence).

17 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TAOK2 was added gene: TAOK2 was added to Autism. Sources: Literature Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK2 were set to 29467497 Phenotypes for gene: TAOK2 were set to Autism Review for gene: TAOK2 was set to AMBER