Gene Symbol:
SLC22A5
HGNC:10969
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q31.1
Filters:

Definitive classifications

systemic primary carnitine deficiency disease
AR
08/17/2018
Evaluated
10/13/2020
Submitted
systemic primary carnitine deficiency disease
Submitted as: OMIM:212140
AR
07/22/2015
Evaluated
09/11/2023
Submitted
systemic primary carnitine deficiency disease
Submitted as: OMIM:212140
AR
05/12/2023
Evaluated
08/19/2023
Submitted
systemic primary carnitine deficiency disease
AR
04/25/2022
Evaluated
09/11/2023
Submitted
systemic primary carnitine deficiency disease
AR
04/24/2018
Evaluated
04/21/2024
Submitted

Strong classifications

systemic primary carnitine deficiency disease
Submitted as: OMIM:212140
AR
01/03/2021
Evaluated
01/21/2021
Submitted
systemic primary carnitine deficiency disease
Submitted as: OMIM:212140
AR
01/26/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

systemic primary carnitine deficiency disease
Submitted as: Orphanet:158
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

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