Gene Symbol:
RAX2
HGNC:18286
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19p13.3
Filters:

Strong classifications

cone-rod dystrophy 11
Submitted as: OMIM:610381
AD
08/30/2017
Evaluated
09/11/2023
Submitted
cone-rod dystrophy 11
Submitted as: OMIM:610381
AD
03/01/2020
Evaluated
11/30/2023
Submitted
retinitis pigmentosa 95
Submitted as: OMIM:620102
AR
03/01/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

retinitis pigmentosa
AR
09/01/2019
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Biallelic RAX2 sequence and structural variants were found in five unrelated European index cases, d... Read more

Supportive classifications

cone-rod dystrophy
Submitted as: Orphanet:1872
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

retinitis pigmentosa 95
Submitted as: OMIM:620102
AR
04/11/2022
Evaluated
08/19/2023
Submitted

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