Recurrent episodic apnoea
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been set to Amber following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on classification: This gene should be rated AMBER as this gene has been implicated in apnoea from two unrelated cases (one case each from PMID:22814174 & PMID:29306089)
This gene has been associated with phenotypes in both OMIM and G2P. However, none of the phenotypes from OMIM have any reference to apnoea.Created: 2 Jan 2023, 11:22 p.m. | Last Modified: 2 Jan 2023, 11:22 p.m.
Panel Version: 0.45
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia 9, OMIM:601042; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126; Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, OMIM:614847
Publications
Eleanor Williams (Genomics England Curator)
Gene added on recommendation of Dr Emma Matthews.Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Dystonia 9, OMIM:601042
- GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777
- GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
- Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885
- {Epilepsy, idiopathic generalized, susceptibility to, 12}, OMIM:614847
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Rare anaemia
- Intellectual disability
- COVID-19 research
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Structural eye disease
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, OMIM:601042; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126; Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, OMIM:614847
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SLC2A1 were set to
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: slc2a1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: SLC2A1 was added gene: SLC2A1 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: SLC2A1 was set to