Gene Symbol:
SLC2A1
HGNC:11005
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p34.2
Filters:

Definitive classifications

encephalopathy due to GLUT1 deficiency
Submitted as: OMIM:606777
AD
07/22/2015
Evaluated
09/11/2023
Submitted
childhood onset GLUT1 deficiency syndrome 2
Submitted as: OMIM:612126
AD
07/22/2015
Evaluated
11/25/2020
Submitted
GLUT1 deficiency syndrome
AD
04/18/2019
Evaluated
10/18/2023
Submitted

Strong classifications

AD
02/18/2021
Evaluated
03/31/2021
Submitted
childhood onset GLUT1 deficiency syndrome 2
Submitted as: OMIM:612126
AD
02/18/2021
Evaluated
03/31/2021
Submitted
encephalopathy due to GLUT1 deficiency
Submitted as: OMIM:606777
AR
02/10/2022
Evaluated
11/30/2023
Submitted
AD
09/14/2022
Evaluated
11/30/2023
Submitted
epilepsy, idiopathic generalized, susceptibility to, 12
Submitted as: OMIM:614847
AD
08/20/2021
Evaluated
11/30/2023
Submitted
encephalopathy due to GLUT1 deficiency
Submitted as: OMIM:606777
AD
02/10/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

myoclonic-astatic epilepsy
Submitted as: Orphanet:1942
Unknown
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
childhood absence epilepsy
Submitted as: Orphanet:64280
AD
09/14/2021
Evaluated
09/14/2021
Submitted
encephalopathy due to GLUT1 deficiency
Submitted as: Orphanet:71277
AD
09/14/2021
Evaluated
09/14/2021
Submitted
childhood onset GLUT1 deficiency syndrome 2
Submitted as: Orphanet:98811
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary cryohydrocytosis with reduced stomatin
Submitted as: Orphanet:168577
AD
09/14/2021
Evaluated
09/14/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.