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
11/25/2020
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
01/16/2023
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
01/25/2022
Evaluated
02/03/2022
Submitted

Supportive classifications

myoclonic-astastic 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

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