Gene Symbol:
PITX2
HGNC:9005
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4q25
Filters:

Definitive classifications

anterior segment dysgenesis 4
Submitted as: OMIM:137600
AD
08/30/2017
Evaluated
09/11/2023
Submitted
ring dermoid of cornea
Submitted as: OMIM:180550
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Axenfeld-Rieger syndrome type 1
Submitted as: OMIM:180500
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Peters anomaly
Submitted as: OMIM:604229
AD
07/22/2015
Evaluated
11/25/2020
Submitted
Axenfeld-Rieger syndrome type 1
Submitted as: OMIM:180500
AD
03/13/2023
Evaluated
08/19/2023
Submitted

Strong classifications

Axenfeld-Rieger syndrome type 1
Submitted as: OMIM:180500
AD
12/29/2020
Evaluated
12/30/2020
Submitted
Axenfeld-Rieger syndrome type 1
Submitted as: OMIM:180500
AD
05/04/2023
Evaluated
11/30/2023
Submitted
anterior segment dysgenesis 4
Submitted as: OMIM:137600
AD
04/20/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

Supportive classifications

Axenfeld-Rieger syndrome
Submitted as: Orphanet:782
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial atrial fibrillation
Submitted as: Orphanet:334
AD
09/14/2021
Evaluated
09/14/2021
Submitted
ring dermoid of cornea
Submitted as: Orphanet:91481
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Rieger anomaly
Submitted as: Orphanet:91483
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Axenfeld anomaly
Submitted as: Orphanet:98978
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Peters anomaly
Submitted as: OMIM:604229
AD
04/20/2022
Evaluated
11/30/2023
Submitted
ring dermoid of cornea
Submitted as: OMIM:180550
Unknown
04/06/2023
Evaluated
11/30/2023
Submitted

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