Early onset or syndromic epilepsy
Gene: TRAK1
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
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
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
Source Wessex and West Midlands GLH was added to TRAK1.
Source NHS GMS was added to TRAK1.
Phenotypes for gene: TRAK1 were changed from Fatal encephalopathy to Epileptic encephalopathy, early infantile, 68 618201
Sarah Leigh: c.287-2A>C homozygous variant
Victorian Clinical Genetics Services was added to TRAK1. Panel: Genetic Epilepsy Syndromes
TRAK1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Literature
TRAK1 was created by Sarah Leigh