Gene Symbol:
SLC7A7
HGNC:11065
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q11.2
Filters:

Ambry Genetics classifications

lysinuric protein intolerance
Submitted as: OMIM:222700
AR
12/07/2021
Evaluated
08/19/2023
Submitted

ClinGen classifications

lysinuric protein intolerance
AR
11/08/2019
Evaluated
04/21/2024
Submitted

Invitae classifications

lysinuric protein intolerance
Submitted as: OMIM:222700
AR
10/03/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

lysinuric protein intolerance
Submitted as: Orphanet:470
AR
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

lysinuric protein intolerance
Submitted as: OMIM:222700
AR
01/05/2021
Evaluated
01/21/2021
Submitted

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