Structural eye disease
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
FC - eye anomalies include cataracts and nystagmus. Mouse model with cataracts (PMID: 29604281) + 2 unrelated patients with de novo mutations and cataracts (Bawazir et al., 2012 - PMID: 22492876 and Flatt et al., 2011 PMID: 21791420). A de novo deletion including this gene has been reported in a patient with cataracts and microphthalmia (PMID: 29223885).Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; 608885
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - eye anomalies include cataracts and nystagmus. Mouse model with cataracts (PMID: 29604281) + 2 unrelated patients with de novo mutations and cataracts (Bawazir et al., 2012 - PMID: 22492876 and Flatt et al., 2011 PMID: 21791420). A de novo deletion including this gene has been reported in a patient with cataracts and microphthalmia (PMID: 29223885).Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; 608885
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- None
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Rare anaemia
- 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
- Early onset or syndromic epilepsy
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SLC2A1 was added gene: SLC2A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC2A1 were set to STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885