Gene Symbol:
RIMS1
HGNC:17282
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6q13
Filters:

Strong classifications

cone-rod dystrophy 7
Submitted as: OMIM:603649
AD
09/16/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

cone-rod dystrophy
Submitted as: Orphanet:1872
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

autism spectrum disorder
AD
03/04/2020
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The RIMS1 gene is located on chromosome 6 at 6q13 and encodes regulating synaptic membrane exocytos... Read more
cone-rod dystrophy 7
Submitted as: OMIM:603649
AD
08/31/2018
Evaluated
12/24/2020
Submitted
cone-rod dystrophy 7
Submitted as: OMIM:603649
AD
09/08/2017
Evaluated
09/11/2023
Submitted

Disputed Evidence classifications

cone-rod dystrophy 7
Submitted as: OMIM:603649
AD
04/15/2021
Evaluated
10/27/2022
Submitted

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