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Mitochondrial disease

Gene: TRAK1

Green List (high evidence)

TRAK1 (trafficking kinesin protein 1)
EnsemblGeneIds (GRCh38): ENSG00000182606
EnsemblGeneIds (GRCh37): ENSG00000182606
OMIM: 608112, Gene2Phenotype
TRAK1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated families reported with EE/ID phenotype. PMID 28924745 provides evidence that TRAK1 is a regulator of mitochondrial fusion.
Sources: Expert list
Created: 13 Apr 2020, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 68, MIM# 618201
OMIM
608112
Clinvar variants
Variants in TRAK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trak1 has been classified as Green List (High Evidence).

13 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trak1 has been classified as Green List (High Evidence).

13 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAK1 was added gene: TRAK1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: TRAK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAK1 were set to 28940097; 28364549; 29846532; 28924745 Phenotypes for gene: TRAK1 were set to Epileptic encephalopathy, early infantile, 68, MIM# 618201 Review for gene: TRAK1 was set to GREEN