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Intellectual disability syndromic and non-syndromic

Gene: TNIK

Amber List (moderate evidence)

TNIK (TRAF2 and NCK interacting kinase)
EnsemblGeneIds (GRCh38): ENSG00000154310
EnsemblGeneIds (GRCh37): ENSG00000154310
OMIM: 610005, Gene2Phenotype
TNIK is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two consanguineous families segregating same homozygous variant plus supportive animal model.
Created: 1 Mar 2020, 5:25 a.m. | Last Modified: 1 Mar 2020, 5:25 a.m.
Panel Version: 0.2314

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 54, MIM# 617028

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 54, MIM# 617028
OMIM
610005
Clinvar variants
Variants in TNIK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNIK were changed from to Mental retardation, autosomal recessive 54, MIM# 617028

1 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNIK were set to

1 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TNIK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNIK was added gene: TNIK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TNIK was set to Unknown