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Intellectual disability

Gene: TRAK1

Amber List (moderate evidence)
TRAK1 (trafficking kinesin protein 1)
EnsemblGeneIds (GRCh38): ENSG00000182606
EnsemblGeneIds (GRCh37): ENSG00000182606
OMIM: 608112, Gene2Phenotype
TRAK1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber - with ID seemingly following seizures, and being in association with a single recurrent variant, TRAK1 currently does not meet the threshold to say that variants cause ID. This may, however, be reviewed if new evidence emerges.

All cases have presented with seizures which should be an adequate indication for diagnostic testing (this gene is rated Green on the Genetic epilepsy syndromes (v2.152) panel).
Created: 21 Sep 2020, 10:23 a.m. | Last Modified: 21 Sep 2020, 10:29 a.m.
Panel Version: 3.316
To date, a total of 6 families with 3 different variants in TRAK1 have been described. However, DD is only reported in 4 families with the same c.287-2A>C variant (no haplotype analysis). Of these, 3 cases reported in PMID: 28364549, exhibited rapid developmental regression following onset of seizures (although some patients had some DD prior to regression). It is unclear whether there was any regression in the case with GDD and the c.287-2A>C variant from PMID: 28940097 (supplementary material).
Created: 21 Sep 2020, 10 a.m. | Last Modified: 21 Sep 2020, 10 a.m.
Panel Version: 3.315

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 68, 618201

Publications

Created: 21 Sep 2020, 10 a.m.
Last Modified: 21 Sep 2020, 10:29 a.m.
Panel version: 3.315

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported, DD/ID is part of the phenotype.
Created: 1 Mar 2020, 9:10 a.m. | Last Modified: 1 Mar 2020, 9:10 a.m.
Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 68, MIM# 618201

Publications

Created: 1 Mar 2020, 9:10 a.m.
Last Modified: 1 Mar 2020, 9:10 a.m.
Panel version: 3.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 68, 618201
OMIM
608112
Clinvar variants
Variants in TRAK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRAK1 were changed from to Epileptic encephalopathy, early infantile, 68, 618201

21 Sep 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TRAK1 were set to

21 Sep 2020, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TRAK1 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: trak1 has been classified as Amber List (Moderate Evidence).

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TRAK1 was added gene: TRAK1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: TRAK1 was set to