Skeletal muscle channelopathy
Gene: SLC2A1
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 3:16 p.m. | Last Modified: 1 Feb 2023, 3:16 p.m.
Panel Version: 2.4
Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. Variants seem to result in a brain channelopathy rather than a skeletal muscle oneCreated: 9 Jun 2021, 3:22 p.m. | Last Modified: 20 Jul 2021, 2:18 p.m.
Panel Version: 1.31
Variants in this gene are associated with several disorders in OMIM but most notably for this panel
Dystonia 9 #601042 (AD)
GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR 3
GLUT1 deficiency syndrome 2, childhood onset 612126 AD
SLC2A1 encodes a facilitative glucose transporter, which is an important energy carrier of the brain, present at the blood-brain barrier.Created: 9 Jun 2021, 3:19 p.m. | Last Modified: 9 Jun 2021, 3:19 p.m.
Panel Version: 1.29
This is a brain channelopathy.Created: 20 Aug 2020, 8:54 a.m. | Last Modified: 20 Aug 2020, 8:54 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 9, MIM# 601042
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:57 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 2, childhood onset, 612126; Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: SLC2A1. Tag Q2_21_phenotype was removed from gene: SLC2A1. Tag Q2_21_expert_review was removed from gene: SLC2A1.
Source Expert Review Red was added to SLC2A1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q2_21_rating tag was added to gene: SLC2A1. Tag Q2_21_expert_review tag was added to gene: SLC2A1.
Tag Q2_21_rating was removed from gene: SLC2A1.
Gene: slc2a1 has been classified as Green List (High Evidence).
Tag Q2_21_rating tag was added to gene: SLC2A1. Tag Q2_21_phenotype tag was added to gene: SLC2A1.
Phenotypes for gene: SLC2A1 were changed from Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 to Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Publications for gene SLC2A1 were changed from to 19630075; 26598494; 10980529
Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 for gene: SLC2A1
Source Expert Review Green was added to SLC2A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SLC2A1.
gene: SLC2A1 was added gene: SLC2A1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: SLC2A1 was set to