1. Panels
  2. Fetal anomalies
  3. TAOK1
Genes in panel
Prev Next

Fetal anomalies

Gene: TAOK1

Red List (low evidence)
TAOK1 (TAO kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000160551
EnsemblGeneIds (GRCh37): ENSG00000160551
OMIM: 610266, Gene2Phenotype
TAOK1 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

On PanelApp: DDG2P and Intellectual disability. PMID:33565190 - cohort of 20, no prenatal phenotype. PMID:31230721 - no prenatal phenotype. PMID:35091509 - A case in this cohort presented with CH- Tetralogy of fallot, VSD and bicuspid aortic valve. This patient also had a CNV invovling NOTCH1 which may be contributing to the cardiac findings. 3/4 cases had polyhydramnios. One case had renal issues. Suggest RED, not enough evidence that CHD is associated. Recognised association is DD and ID. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575
OMIM
610266
Clinvar variants
Variants in TAOK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TAOK1 was added gene: TAOK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK1 were set to 31230721; 35091509; 33565190 Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575