This Panel is marked as Internal
Anaemias and red cell disorders
Gene: SLC2A1
SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stomatocytosis; Pyridoxine-refractory sideroblastic anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Phenotypes
-
- Stomatocytosis
- Pyridoxine-refractory sideroblastic anemia
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Complete
- 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
- 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
- Adult onset neurodegenerative disorder
- 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
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)SLC2A1 was created by BRIDGE
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)SLC2A1 was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)