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Intellectual disability

Gene: TAOK1

Green List (high evidence)

TAOK1 (TAO kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000160551
EnsemblGeneIds (GRCh37): ENSG00000160551
OMIM: 610266, Gene2Phenotype
TAOK1 is in 2 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Set MOI to MONOALLELIC, to match Gene2Phenotype and PMID:31230721.
Created: 11 Nov 2019, 10:29 a.m. | Last Modified: 11 Nov 2019, 10:29 a.m.
Panel Version: 2.1096

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Eight individuals with developmental delay NDDs were reported to have de novo variants in this gene in PMID: 31230721.
Created: 11 Nov 2019, 9:26 a.m. | Last Modified: 11 Nov 2019, 9:26 a.m.
Panel Version: 2.1095

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Ellen Thomas (Genomics England Curator)

Comment on list classification: Recently reported DD gene
Created: 9 Nov 2019, 11:36 a.m. | Last Modified: 9 Nov 2019, 11:36 a.m.
Panel Version: 2.1095
Comment on list classification: Recently reported DD gene
Created: 9 Nov 2019, 11:36 a.m. | Last Modified: 9 Nov 2019, 11:36 a.m.
Panel Version: 2.1095
Comment on list classification: Recently reported DD gene
Created: 9 Nov 2019, 11:36 a.m. | Last Modified: 9 Nov 2019, 11:36 a.m.
Panel Version: 2.1095
Comment on list classification: Recently reported DD gene
Created: 9 Nov 2019, 11:35 a.m. | Last Modified: 9 Nov 2019, 11:35 a.m.
Panel Version: 2.1094
Comment on list classification: Recently reported DD gene
Created: 9 Nov 2019, 11:35 a.m. | Last Modified: 9 Nov 2019, 11:35 a.m.
Panel Version: 2.1094

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • INTELLECTUAL DISABILITY
  • developmental delay
OMIM
610266
Clinvar variants
Variants in TAOK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TAOK1 were changed from to INTELLECTUAL DISABILITY; developmental delay

11 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TAOK1 were set to

11 Nov 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TAOK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

Gene: taok1 has been classified as Green List (High Evidence).

9 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

Gene: taok1 has been classified as Green List (High Evidence).

9 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

Gene: taok1 has been classified as Green List (High Evidence).

9 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

Gene: taok1 has been classified as Green List (High Evidence).

9 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

Gene: taok1 has been classified as Green List (High Evidence).

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TAOK1 was added gene: TAOK1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: TAOK1 was set to