Gene Symbol:
OPTN
HGNC:17142
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10p13
Filters:

Definitive classifications

amyotrophic lateral sclerosis type 12
SD
05/10/2022
Evaluated
04/21/2024
Submitted
glaucoma, normal tension, susceptibility to
AD
11/17/2022
Evaluated
04/21/2024
Submitted

Strong classifications

amyotrophic lateral sclerosis type 12
Submitted as: OMIM:613435
AR
01/28/2021
Evaluated
03/31/2021
Submitted
amyotrophic lateral sclerosis type 12
Submitted as: OMIM:613435
SD
10/30/2018
Evaluated
03/02/2021
Submitted
amyotrophic lateral sclerosis type 12
Submitted as: OMIM:613435
AR
04/15/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
amyotrophic lateral sclerosis type 12
Submitted as: OMIM:613435
AR
08/22/2022
Evaluated
11/30/2023
Submitted
amyotrophic lateral sclerosis type 12
Submitted as: OMIM:613435
AD
08/22/2022
Evaluated
11/30/2023
Submitted
glaucoma 1, open angle, E
Submitted as: OMIM:137760
AD
08/27/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

amyotrophic lateral sclerosis
Submitted as: Orphanet:803
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

glaucoma 1, open angle, E
Submitted as: OMIM:137760
AD
07/29/2022
Evaluated
08/19/2023
Submitted

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