Gene Symbol:
OPA3
HGNC:8142
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19q13.32
Filters:

Definitive classifications

3-methylglutaconic aciduria type 3
AR
08/22/2018
Evaluated
10/13/2020
Submitted
3-methylglutaconic aciduria type 3
Submitted as: OMIM:258501
AR
06/23/2017
Evaluated
09/11/2023
Submitted

Strong classifications

3-methylglutaconic aciduria type 3
Submitted as: OMIM:258501
AR
12/15/2018
Evaluated
11/30/2023
Submitted
optic atrophy 3
Submitted as: OMIM:165300
AD
04/19/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

optic atrophy 3
Submitted as: Orphanet:67036
AD
09/14/2021
Evaluated
09/14/2021
Submitted
3-methylglutaconic aciduria type 3
Submitted as: Orphanet:67047
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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