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Intellectual disability syndromic and non-syndromic

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, DD/ID is part of the phenotype.
Created: 1 Mar 2020, 9:06 a.m. | Last Modified: 1 Mar 2020, 9:06 a.m.
Panel Version: 0.2329

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
  • Genetic Health Queensland
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

1 Mar 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).

1 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAK1 were set to

1 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAK1 was added gene: TRAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAK1 was set to Unknown