Early onset dystonia
Gene: SLC2A1Comment on mode of inheritance: Changed from monoallelic to "both" as OMIM includes a report of a compound heterozygote and homozygous patient with GLUT1 deficiency syndrome 1.Created: 23 Aug 2016, 3:18 p.m.
Comment on list classification: Is a confirmed DD gene for GLUT1 deficiency syndrome 1 and 2. Multiple cases/families reported on OMIM for GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 deficiency syndrome 2, childhood onset and Dystonia 9.Created: 23 Aug 2016, 3:15 p.m.
Is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:31 a.m.
This is also known as GLUT-1.Created: 9 Jun 2016, 10:49 a.m.
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Phenotypes for SLC2A1 were set to Dystonia; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SLC2A1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Mode of inheritance for SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SLC2A1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
SLC2A1 was added to Early onset dystoniapanel. Sources: UKGTN
SLC2A1 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
SLC2A1 was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services