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Genetic epilepsy syndromes

Gene: TRAK1

Green List (high evidence)

TRAK1 (trafficking kinesin protein 1)
EnsemblGeneIds (GRCh38): ENSG00000182606
EnsemblGeneIds (GRCh37): ENSG00000182606
OMIM: 608112, Gene2Phenotype
TRAK1 is in 4 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Fatal encephalopathy (splice variant) - Barel et al, Brain 2017 - 3 unrelated consanguineous families - all had the same hom change. 6 variants reported on HGMD Pro - phenotypes = ID, Autism, schizophrenia and Hyperekplexia and refractory status epilepticus.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 618201

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

c.287-2A>C homozygous variant reported in four cases in three apparently unrelated Israeli families (no haplotype information provided), segregation with condition reported with disease in these families. Functional studies included. From PMID 28364549.
Created: 4 May 2017, 12:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fatal encephalopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 68 618201
OMIM
608112
Clinvar variants
Variants in TRAK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TRAK1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TRAK1.

15 Jul 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: c.287-2A>C homozygous variant

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TRAK1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TRAK1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Literature

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

TRAK1 was created by Sarah Leigh