Gene Symbol:
GPR143
HGNC:20145
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp22.2
Filters:

Definitive classifications

inherited retinal dystrophy
XL
10/06/2022
Evaluated
04/21/2024
Submitted
XL
06/01/2017
Evaluated
01/17/2025
Submitted

Strong classifications

nystagmus 6, congenital, X-linked
Submitted as: OMIM:300814
XL
09/17/2021
Evaluated
11/30/2023
Submitted
X-linked recessive ocular albinism
Submitted as: OMIM:300500
XL
04/20/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

X-linked recessive ocular albinism
Submitted as: Orphanet:54
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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