Mitochondrial disorders
Gene: TRAK1

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

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red it is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).
Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 2:08 p.m.

Panel Version: 1.456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 68 618201

Publications

Created: 5 Aug 2019, 10:38 a.m.
Last Modified: 5 Aug 2019, 2:08 p.m.
Panel version: 1.423

Details

Sources

Expert list

OMIM

608112

Clinvar variants

Variants in TRAK1

Penetrance

None

Panels with this gene

History Filter Activity

5 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: TRAK1 was added gene: TRAK1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: TRAK1 was set to

Mitochondrial disorders Gene: TRAK1