Cataracts

Gene: SLC2A1

Green List (high evidence)

SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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)

I don't know

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

History Filter Activity

12 Jan 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Jan 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC2A1 were set to Stomatin-deficient cryohydrocytosis with neurologic defects 608885

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC2A1 were set to Cryohydrocytosis, stomatin-deficient

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 May 2016, Gel status: 4

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

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SLC2A1 was added to Cataractspanel. Sources: UKGTN