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Epileptic encephalopathy

Gene: TRAK1

Green List (high evidence)

TRAK1 (trafficking kinesin protein 1)
EnsemblGeneIds (GRCh38): ENSG00000182606
EnsemblGeneIds (GRCh37): ENSG00000182606
OMIM: 608112, Gene2Phenotype
TRAK1 is in 2 panels

1 review

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.
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
  • Expert Review Green
  • Literature
Phenotypes
  • Fatal encephalopathy
OMIM
608112
Clinvar variants
Variants in TRAK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TRAK1 was added to Epileptic encephalopathypanel. Sources: Literature

4 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TRAK1 was created by sleigh