Gene Symbol:
SLC6A8
HGNC:11055
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq28
Filters:

Definitive classifications

creatine transporter deficiency
Submitted as: OMIM:300352
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
creatine transporter deficiency
Submitted as: OMIM:300352
XL
07/22/2015
Evaluated
09/11/2023
Submitted
creatine transporter deficiency
XL
02/10/2020
Evaluated
04/21/2024
Submitted

Strong classifications

creatine transporter deficiency
Submitted as: OMIM:300352
XL
09/14/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

creatine transporter deficiency
Submitted as: Orphanet:52503
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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