Gene Symbol:
NR2F1
HGNC:7975
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q15
Filters:

Definitive classifications

Bosch-Boonstra-Schaaf optic atrophy syndrome
Submitted as: OMIM:615722
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Bosch-Boonstra-Schaaf optic atrophy syndrome
Submitted as: OMIM:615722
AR
08/29/2017
Evaluated
09/11/2023
Submitted
Bosch-Boonstra-Schaaf optic atrophy syndrome
Submitted as: OMIM:615722
AD
10/11/2023
Evaluated
01/02/2024
Submitted
Bosch-Boonstra-Schaaf optic atrophy syndrome
AD
02/16/2022
Evaluated
04/21/2024
Submitted

Strong classifications

Bosch-Boonstra-Schaaf optic atrophy syndrome
Submitted as: OMIM:615722
AD
09/15/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

Bosch-Boonstra-Schaaf optic atrophy syndrome
Submitted as: Orphanet:401777
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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