Gene Symbol:
PAX6
HGNC:8620
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p13
Filters:

Definitive classifications

autosomal dominant keratitis
Submitted as: OMIM:148190
AD
07/22/2015
Evaluated
11/25/2020
Submitted
AD
07/22/2015
Evaluated
09/11/2023
Submitted
coloboma of optic nerve
Submitted as: OMIM:120430
AD
07/22/2015
Evaluated
11/25/2020
Submitted
aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AD
07/22/2015
Evaluated
11/25/2020
Submitted
PAX6-related ocular dysgenesis
AD
06/02/2022
Evaluated
04/21/2024
Submitted
isolated optic nerve hypoplasia
Submitted as: OMIM:165550
AD
07/22/2015
Evaluated
11/25/2020
Submitted
foveal hypoplasia 1
Submitted as: OMIM:136520
AD
07/22/2015
Evaluated
11/25/2020
Submitted
Peters anomaly
Submitted as: OMIM:604229
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

AD
01/29/2021
Evaluated
03/31/2021
Submitted
AD
10/15/2020
Evaluated
03/31/2021
Submitted
Peters anomaly
Submitted as: OMIM:604229
AD
12/29/2020
Evaluated
12/30/2020
Submitted
AD
08/17/2023
Evaluated
11/30/2023
Submitted
Peters anomaly
Submitted as: OMIM:604229
AD
05/05/2020
Evaluated
11/30/2023
Submitted
coloboma, ocular, autosomal dominant
Submitted as: OMIM:120200
AD
12/28/2020
Evaluated
12/30/2020
Submitted

Supportive classifications

aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: Orphanet:1065
AD
09/14/2021
Evaluated
09/14/2021
Submitted
foveal hypoplasia-presenile cataract syndrome
Submitted as: Orphanet:2253
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant keratitis
Submitted as: Orphanet:2334
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Peters anomaly
Submitted as: Orphanet:708
AD
09/14/2021
Evaluated
09/14/2021
Submitted
isolated optic nerve hypoplasia
Submitted as: Orphanet:137902
AD
09/14/2021
Evaluated
09/14/2021
Submitted
isolated aniridia
Submitted as: Orphanet:250923
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

autosomal dominant keratitis
Submitted as: OMIM:148190
Unknown
02/21/2020
Evaluated
11/30/2023
Submitted

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