Cytopenias and congenital anaemias
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: changed status from Red to Green due to literature reviewCreated: 3 Mar 2017, 7:01 p.m.
Comment on publications: At least three unrelated cases with Stomatin-deficient cryohydrocytosis with neurologic defects has been reported in the literature PMID: 15180870, 21791420, 22492876.Created: 3 Mar 2017, 6:54 p.m.
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
-
- Expert Review Green
- Literature
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Stomatocytosis
- Pyridoxine-refractory sideroblastic anemia
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paroxysmal central nervous system disorders
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Fetal anomalies
- Rare anaemia
- Ataxia and cerebellar anomalies - childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Cytopenias and congenital anaemias
- Hereditary spastic paraplegia, childhood onset
- COVID-19 research
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- DDG2P
- Skeletal muscle channelopathy
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary spastic paraplegia
- Structural eye disease
- Brain channelopathy
- Skeletal Muscle Channelopathies
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Louise Daugherty (Genomics England Curator)SLC2A1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature
Set publications
Louise Daugherty (Genomics England Curator)Publications for SLC2A1 were set to 21791420; 22492876;15180870;21791420;22492876
Created
Louise Daugherty (Genomics England Curator)SLC2A1 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)SLC2A1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)