Gene Symbol:
BEST1
HGNC:12703
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q12.3
Filters:

Definitive classifications

autosomal dominant vitreoretinochoroidopathy
AD
08/12/2017
Evaluated
01/17/2025
Submitted
vitelliform macular dystrophy 2
Submitted as: OMIM:153700
AD
05/24/2016
Evaluated
03/02/2021
Submitted
inherited retinal dystrophy
AD
08/03/2023
Evaluated
04/21/2024
Submitted
autosomal recessive bestrophinopathy
Submitted as: OMIM:611809
AR
01/29/2020
Evaluated
03/02/2021
Submitted

Strong classifications

retinitis pigmentosa 50
Submitted as: OMIM:613194
AD
10/26/2021
Evaluated
11/30/2023
Submitted
autosomal dominant vitreoretinochoroidopathy
Submitted as: OMIM:193220
AD
04/19/2021
Evaluated
11/30/2023
Submitted
vitelliform macular dystrophy 2
Submitted as: OMIM:153700
AD
04/27/2023
Evaluated
11/30/2023
Submitted
autosomal recessive bestrophinopathy
Submitted as: OMIM:611809
AR
02/02/2023
Evaluated
11/30/2023
Submitted
autosomal dominant vitreoretinochoroidopathy
Submitted as: OMIM:193220
AD
03/04/2020
Evaluated
01/21/2021
Submitted

Moderate classifications

autosomal dominant vitreoretinochoroidopathy
Submitted as: OMIM:193220
AD
08/08/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

autosomal recessive bestrophinopathy
Submitted as: Orphanet:139455
AR
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
vitelliform macular dystrophy 2
Submitted as: Orphanet:1243
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant vitreoretinochoroidopathy
Submitted as: Orphanet:3086
AD
09/14/2021
Evaluated
09/14/2021
Submitted
retinitis pigmentosa
Submitted as: Orphanet:791
AD
09/14/2021
Evaluated
09/14/2021
Submitted
adult-onset foveomacular vitelliform dystrophy
Submitted as: Orphanet:99000
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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