Newborns additional phenotypes panel 1
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Special Consideration: Multiple MOIs for the same phenotype included.
Additional Information: AD and AR forms of GLUT1 deficiency syndrome-1 are included.Created: 26 Sep 2024, 4:14 p.m. | Last Modified: 18 Nov 2025, 3:35 p.m.
Panel Version: 0.102
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 5 Jul 2023, 3:13 p.m. | Last Modified: 5 Jul 2023, 3:13 p.m.
Panel Version: 0.31
https://search.clinicalgenome.org/kb/genes/HGNC:11005Created: 5 Jul 2023, 3:13 p.m. | Last Modified: 5 Jul 2023, 3:13 p.m.
Panel Version: 0.31
is this a semidominant for which we are only interested in AR? -> KS: Added another row for ADCreated: 5 Jul 2023, 3:13 p.m. | Last Modified: 5 Jul 2023, 3:13 p.m.
Panel Version: 0.31
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- GLUT1 deficiency syndrome-1, Autosomal Dominant
- Tags
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
- Structural eye disease
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Early onset or syndromic epilepsy
- Rare anaemia
- Childhood onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: SLC2A1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC2A1 were changed from GLUT1 deficiency syndrome-1 to GLUT1 deficiency syndrome-1, Autosomal Dominant
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to SLC2A1. Added phenotypes GLUT1 deficiency syndrome-1 for gene: SLC2A1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: SLC2A1 was added gene: SLC2A1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome-1