Bilateral congenital or childhood onset cataracts
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Phenotypes
Cryohydrocytosis, stomatin-deficient
Publications
- Gillespie et al (2016) Ophthalmol 123:217-220
- Flatt et al (2011) 118(19):5267-77
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green due to expert review.Created: 31 May 2016, 11:16 a.m.
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for GLUT1 and GLUT 2 deficiency syndrome, however it is unclear whether cataracts is an associated phenotype. Cataracts is a phenotype within Stomatin-deficient cryohydrocytosis with neurologic defects on OMIM: http://omim.org/clinicalSynopsis/608885, for which this gene is associated with.Created: 29 Apr 2016, 2:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Stomatin-deficient cryohydrocytosis with neurologic defects 608885
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Complete
- Publications
-
- Gillespie et al (2016) Ophthalmol 123:217-220
- Flatt et al (2011) 118(19):5267-77
- Panels with this gene
-
- Rare anaemia
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Skeletal muscle channelopathy
- Childhood onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Early onset dystonia
- Hereditary spastic paraplegia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
History Filter Activity
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC2A1 were set to Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC2A1 were set to Cryohydrocytosis, stomatin-deficient
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC2A1 were set to Gillespie et al (2016) Ophthalmol 123:217-220; Flatt et al (2011) 118(19):5267-77
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()SLC2A1 was added to Cataractspanel. Sources: UKGTN