Gene Symbol:
SLC37A4
HGNC:4061
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q23.3
Filters:

Genomics England PanelApp classifications

glycogen storage disease Ib
Submitted as: OMIM:232240
AR
06/23/2020
Evaluated
03/31/2021
Submitted
glycogen storage disease Ib
Submitted as: OMIM:232220
AR
06/23/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

congenital disorder of glycosylation, type IIw
Submitted as: OMIM:619525
AD
10/12/2021
Evaluated
11/30/2023
Submitted
glycogen storage disease Ib
Submitted as: OMIM:232240
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Myriad Women’s Health classifications

glycogen storage disease type 1 due to SLC37A4 mutation
AR
07/12/2018
Evaluated
10/13/2020
Submitted

PanelApp Australia classifications

glycogen storage disease Ib
Submitted as: OMIM:232220
AR
03/06/2021
Evaluated
03/09/2021
Submitted
glycogen storage disease Ib
Submitted as: OMIM:232240
AR
03/06/2021
Evaluated
03/09/2021
Submitted

G2P classifications

glycogen storage disease Ib
Submitted as: OMIM:232220
AR
07/09/2021
Evaluated
09/11/2023
Submitted

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