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Intellectual disability

Gene: TAOK2

Amber List (moderate evidence)
TAOK2 (TAO kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000149930
EnsemblGeneIds (GRCh37): ENSG00000149930
OMIM: 613199, Gene2Phenotype
TAOK2 is in 1 panel

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Nour Elkhateeb, PMID:39737487 reported 10 individuals with monoallelic TAOK2 variants and with a neurodevelopmental disorder. Four of these patients were reported with global developmental delay and eight were reported with intellectual disability/ learning difficulties. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 10 Jan 2025, 1:37 p.m. | Last Modified: 10 Jan 2025, 1:49 p.m.
Panel Version: 8.48

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 10 Jan 2025, 12:51 p.m.
Last Modified: 10 Jan 2025, 1:49 p.m.
Panel version: 8.46

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Green List (high evidence)

Recent study PMID: 39737487 reporting 10 individuals with varying degrees of Developmental delay, Intellectual disability, Speech and language delay and Autism spectrum disorder as well as other features such as obesity, tall stature and macrocephaly. These individuals had heterozygous missense and truncating TAOK2 variants.
PMID: 29467497 reported individuals with autism and heterozygous missense and truncating TAOK2 variants.
Sources: Literature
Created: 6 Jan 2025, 11:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay; Intellectual disability; Speech and language delay; Autism spectrum disorder

Publications

Created: 6 Jan 2025, 11:50 a.m.

Panel version: 8.45

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • neuronevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
Q1_25_ NHS_review Q1_25_ promote_green
OMIM
613199
Clinvar variants
Variants in TAOK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: TAOK2. Tag Q1_25_ promote_green tag was added to gene: TAOK2.

10 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

10 Jan 2025, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TAOK2 were changed from Developmental delay; Intellectual disability; Speech and language delay; Autism spectrum disorder to neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

10 Jan 2025, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: TAOK2 were set to PMID: 39737487; 29467497

6 Jan 2025, Gel status: 0

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

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

gene: TAOK2 was added gene: TAOK2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK2 were set to PMID: 39737487; 29467497 Phenotypes for gene: TAOK2 were set to Developmental delay; Intellectual disability; Speech and language delay; Autism spectrum disorder Review for gene: TAOK2 was set to GREEN