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Intellectual disability

Gene: TNIK

Amber List (moderate evidence)

TNIK (TRAF2 and NCK interacting kinase)
EnsemblGeneIds (GRCh38): ENSG00000154310
EnsemblGeneIds (GRCh37): ENSG00000154310
OMIM: 610005, Gene2Phenotype
TNIK is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Rated gene as Amber based on current information in the literature and external expert review.
Created: 17 Jul 2018, 12:06 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Two families reported in the literature; however, same variant ?founder effect. Consider inclusion as Amber.
Created: 22 Jun 2018, 2:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 54

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Mental retardation, autosomal recessive 54, 617028
OMIM
610005
Clinvar variants
Variants in TNIK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TNIK.

17 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TNIK were set to Mental retardation, autosomal recessive 54, 617028

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

TNIK was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

TNIK was created by Zornitza Stark